المؤلفون: Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G. Heller, Elisa Civaschi, Nuria Pujol Moix, Fabrizio Fabris, Remi Favier, Paolo Gresele, Véronique Latger Cannard, Adam Cuker, Paquita Nurden, Andreas Greinacher, Marco Cattaneo, Erica De Candia, Alessandro Pecci, Marie Françoise Hurtaud Roux, Ana C. Glembotsky, Eduardo Muñiz Diaz, Maria Luigia Randi, Nathalie Trillot, Loredana Bury, Thomas Lecompte, Caterina Marconi, Carlo L. Balduini, Sophie Bayart, Anne Bauters, Schéhérazade Benabdallah Guedira, Françoise Boehlen, Jeanne Yvonne Borg, James Bussel, Emmanuel de Maistre, Emanuela Falcinelli, Silvia Ferrari, Alina Ferster, Tiziana Fierro, Dominique Fleury, Pierre Fontana, Chloé James, Francois Lanza, Véronique Le Cam Duchez, Giuseppe Loffredo, Pamela Magini, Dominique Martin Coignard, Fanny Menard, Sandra Mercier, Annamaria Mezzasoma, Pietro Minuz, Ilaria Nichele, Lucia D. Notarangelo, Tommaso Pippucci, Gian Marco Podda, Catherine Pouymayou, Agnes Rigouzzo, Bruno Royer, Pierre Sie, Virginie Siguret, Catherine Trichet, Alessandra Tucci, Béatrice Saposnik, Dino Veneri, SAVOIA, ANNA, BOTTEGA, ROBERTA, DE ROCCO, DANIELA, FALESCHINI, MICHELA

المساهمون: Patrizia, Nori, Nicole, Schlegel, Catherine, Klersy, Paula G., Heller, Elisa, Civaschi, Nuria Pujol, Moix, Fabrizio, Fabri, Remi, Favier, Paolo, Gresele, Véronique Latger, Cannard, Adam, Cuker, Paquita, Nurden, Andreas, Greinacher, Marco, Cattaneo, Erica De, Candia, Alessandro, Pecci, Marie Françoise Hurtaud, Roux, Ana C., Glembotsky, Eduardo Muñiz, Diaz, Maria Luigia, Randi, Nathalie, Trillot, Loredana, Bury, Thomas, Lecompte, Caterina, Marconi, Savoia, Anna, Carlo L., Balduini, Sophie, Bayart, Anne, Bauter, Schéhérazade Benabdallah, Guedira, Françoise, Boehlen, Jeanne Yvonne, Borg, Bottega, Roberta, James, Bussel, DE ROCCO, Daniela, Emmanuel de, Maistre, Faleschini, Michela, Emanuela, Falcinelli, Silvia, Ferrari, Alina, Ferster, Tiziana, Fierro, Dominique, Fleury, Pierre, Fontana, Chloé, Jame, Francois, Lanza, Véronique Le Cam, Duchez, Giuseppe, Loffredo, Pamela, Magini, Dominique Martin, Coignard, Fanny, Menard, Sandra, Mercier, Annamaria, Mezzasoma, Pietro, Minuz, Ilaria, Nichele, Lucia D., Notarangelo, Tommaso, Pippucci, Gian Marco, Podda, Catherine, Pouymayou, Agnes, Rigouzzo, Bruno, Royer, Pierre, Sie, Virginie, Siguret, Catherine, Trichet, Alessandra, Tucci, Béatrice, Saposnik, Dino, Veneri

مصطلحات موضوعية: Adult, Female, Human, Infant, Newborn, Pregnancy, Pregnancy Complications, Hematologic, Retrospective Studie, Thrombocytopenia, Young Adult, Hematology, Medicine (all)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24763399; info:eu-repo/semantics/altIdentifier/wos/WOS:000342834300024; volume:99; issue:8; firstpage:1387; lastpage:1394; numberofpages:8; journal:HAEMATOLOGICA; http://hdl.handle.net/11368/2846527Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84905198554; http://www.haematologica.org/content/99/8/1387.full.pdfTest

الإتاحة: https://doi.org/10.3324/haematol.2014.105924Test
http://hdl.handle.net/11368/2846527Test
http://www.haematologica.org/content/99/8/1387.full.pdfTest

المؤلفون: Daniel Duarte, Mariana Bonduel, Sri V V Deevi, Kathleen Stirrups, Paolo Gresele, David Allsup, Rutendo Mapeta, Jonathan Stephens, Tadbir K. Bariana, Kathleen Freson, Nihr BioResource, Ernest Turro, Kim Elliott, Nicola Curry, David Keeling, D. J. Perry, Kate Downes, Carolyn M. Millar, Luigi Grassi, Keith Gomez, Nora Butta, Ilenia Simeoni, Emanuela Falcinelli, Peter William Collins, Michele P. Lambert, Christopher J. Penkett, Loredana Bury, John K. Wu, Nick Gleadall, Karina Althaus, Daniel Greene, Bruce Furie, Willem H. Ouwehand, Rachel Linger, Sarah K Westbury, Karyn Megy, Sarah Mangles

المساهمون: Megy, Karyn [0000-0002-2826-3879], Stephens, Jonathan [0000-0003-2020-9330], Downes, Kate [0000-0003-0366-1579], Johnson, Kathleen [0000-0002-6823-3252], Turro Bassols, Ernest [0000-0002-1820-6563], Ouwehand, Willem [0000-0002-7744-1790], Simeoni, Ilenia [0000-0001-5039-2194], Apollo - University of Cambridge Repository

المصدر: Human Mutation
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C J, Perry, D J, Stirrups, K, Turro, E, Westbury, S K, Wu, J, Gomez, K, Freson, K, Ouwehand, W H & Gresele, P & Simeoni, I 2019, ' Next-generation sequencing for the diagnosis of MYH9-RD : predicting pathogenic variants ', Human Mutation . https://doi.org/10.1002/humu.23927Test
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C, Perry, D J, Stirrups, K E, Turro, E, Westbury, S K, Wu, J, Bioresource, N, Gomez, K, Freson, K, Ouwehand, W H, Gresele, P, Simeoni, I, Williamson, C & Dixon, P 2020, ' Next-generation sequencing for the diagnosis of MYH9 -RD: Predicting pathogenic variants ', Human Mutation, vol. 41, no. 1, pp. 277-290 . https://doi.org/10.1002/humu.23927Test

مصطلحات موضوعية: Male, Variable severity, Fluorescent Antibody Technique, Gene Expression, high throughput next generation sequencing, Child, Genetics (clinical), Research Articles, 0303 health sciences, Kidney, 030305 genetics & heredity, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Middle Aged, Macrothrombocytes, MYH9‐related disorders, ACMG guidelines, 3. Good health, Clinical Practice, medicine.anatomical_structure, Phenotype, clinical diagnosis, Child, Preschool, Female, ACMG Guidelines, Research Article, Adult, medicine.medical_specialty, Adolescent, Genotype, Platelet disorder, genomics, high throughput sequencing, MYH9-related disorders, variant classification, Biology, DNA sequencing, Evolution, Molecular, 03 medical and health sciences, Young Adult, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Alleles, Genetic Association Studies, 030304 developmental biology, Aged, Myosin Heavy Chains, Genetic variants, Genetic Variation, Infant, medicine.disease, Bleeding diathesis, Mutation

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b150ff99d83e6e6627c2e3b46c3ed5cTest
https://lirias.kuleuven.be/handle/123456789/641720Test

المؤلفون: Paolo Gresele, Anna Bartolini, Tiziana Fierro, Carlo Cagini, Alessia Iannone, Tito Fiore

المصدر: European Journal of Ophthalmology. 26:188-192

مصطلحات موضوعية: Adult, Male, Eye Hemorrhage, medicine.medical_specialty, Adolescent, Conjunctival Diseases, Eye injuries, 03 medical and health sciences, Age Distribution, Eye Injuries, 0302 clinical medicine, Recurrence, Risk Factors, Eye emergency department, Prevalence, Humans, Medicine, In patient, Prospective Studies, Sex Distribution, Child, Hemostatic function, Prospective cohort study, Aged, Aged, 80 and over, Hemostasis, business.industry, Infant, Newborn, Subconjunctival hemorrhage, Infant, 030208 emergency & critical care medicine, General Medicine, Emergency department, Middle Aged, medicine.disease, Surgery, Ophthalmology, Italy, Child, Preschool, Screening, 030221 ophthalmology & optometry, Female, Emergency Service, Hospital, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05177f21bde62e6498205143122b73dcTest
https://doi.org/10.5301/ejo.5000692Test

المؤلفون: Yoko Ito, Keren J. Carss, Sofia T. Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan, Hans van Bokhoven, Anthony van Essen, Conny van Ravenswaaij-Arts, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond, Timothy Aitman, David Bennett, Mark Caulfield, Patrick Chinnery, Daniel Gale, Ania Koziell, Taco W. Kuijpers, Michael A. Laffan, Eamonn Maher, Hugh S. Markus, Nicholas W. Morrell, Willem H. Ouwehand, David J. Perry, Irene Roberts, Kenneth G.C. Smith, Adrian Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R. Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Christopher J. Penkett, Kathleen Stirrups, Marijke Veltman, Tim Young, Matthew Brown, Naomi Clements-Brod, John Davis, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Amy Frary, Rachel Linger, Jennifer M. Martin, Sofia Papadia, Karola Rehnstrom, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K. Bariana, Paula Bolton-Maggs, Elizabeth Chalmers, Janine Collins, Peter Collins, Wendy N. Erber, Tamara Everington, Remi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Johanna Gebhart, Keith Gomez, Daniel Greene, Andreas Greinacher, Paolo Gresele, Daniel Hart, Johan W.M. Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M. Kelly, Michele P. Lambert, Claire Lentaigne, Ri Liesner, Mike Makris, Sarah Mangles, Mary Mathias, Carolyn M. Millar, Andrew Mumford, Paquita Nurden, Jeanette Payne, John Pasi, Kathelijne Peerlinck, Shoshana Revel-Vilk, Michael Richards, Matthew Rondina, Catherine Roughley, Sol Schulman, Harald Schulze, Marie Scully, Suthesh Sivapalaratnam, Matthew Stubbs, R. Campbell Tait, Kate Talks, Jecko Thachil, Cheng-Hock Toh, Ernest Turro, Chris Van Geet, Minka De Vries, Timothy Q. Warner, Henry Watson, Sarah Westbury, Abigail Furnell, Rutendo Mapeta, Paula Rayner-Matthews, Ilenia Simeoni, Simon Staines, Jonathan Stephens, Christopher Watt, Deborah Whitehorn, Antony Attwood, Louise Daugherty, Sri V.V. Deevi, Csaba Halmagyi, Fengyuan Hu, Vera Matser, Stuart Meacham, Karyn Megy, Olga Shamardina, Catherine Titterton, Salih Tuna, Ping Yu, Julie von Ziegenweldt, William Astle, Marta Bleda, Stefan Gräf, Matthias Haimel, Hana Lango-Allen, Sylvia Richardson, Paul Calleja, Stuart Rankin, Wojciech Turek, Julie Anderson, Christine Bryson, Jenny Carmichael, Coleen McJannet, Sophie Stock, Louise Allen, Gautum Ambegaonkar, Ruth Armstrong, Gavin Arno, Maria Bitner-Glindzicz, Angie Brady, Natalie Canham, Manali Chitre, Emma Clement, Virginia Clowes, Patrick Deegan, Charu Deshpande, Rainer Doffinger, Helen Firth, Frances Flinter, Courtney French, Alice Gardham, Neeti Ghali, Paul Gissen, Detelina Grozeva, Robert Henderson, Anke Hensiek, Simon Holden, Muriel Holder, Susan Holder, Jane Hurst, Dragana Josifova, Deepa Krishnakumar, Melissa Lees, Robert MacLaren, Anna Maw, Sarju Mehta, Michel Michaelides, Anthony Moore, Elaine Murphy, Soo-Mi Park, Alasdair Parker, Chris Patch, Joan Paterson, Julia Rankin, Evan Reid, Elisabeth Rosser, Richard Sandford, Saikat Santra, Richard Scott, Aman Sohal, Penelope Stein, Ellen Thomas, Dorothy Thompson, Marc Tischkowitz, Julie Vogt, Emma Wakeling, Evangeline Wassmer, Andrew Webster, Sonia Ali, Souad Ali, Harm J. Boggard, Colin Church, Gerry Coghlan, Victoria Cookson, Paul A. Corris, Amanda Creaser-Myers, Rosa DaCosta, Natalie Dormand, Mélanie Eyries, Henning Gall, Pavandeep K. Ghataorhe, Stefano Ghio, Ardi Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Alan Greenhalgh, Charaka Hadinnapola, Arjan C. Houweling, Marc Humbert, Anna Huis in’t Veld, Fiona Kennedy, David G. Kiely, Gabor Kovacs, Allan Lawrie, Rob V. Mackenzie Ross, Rajiv Machado, Larahmie Masati, Sharon Meehan, Shahin Moledina, David Montani, Shokri Othman, Andrew J. Peacock, Joanna Pepke-Zaba, Val Pollock, Gary Polwarth, Lavanya Ranganathan, Christopher J. Rhodes, Kevin Rue-Albrecht, Gwen Schotte, Debbie Shipley, Florent Soubrier, Laura Southgate, Laura Scelsi, Jay Suntharalingam, Yvonne Tan, Mark Toshner, Carmen M. Treacy, Richard Trembath, Anton Vonk Noordegraaf, Sara Walker, Ivy Wanjiku, John Wharton, Martin Wilkins, Stephen J. Wort, Katherine Yates, Hana Alachkar, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Claire Booth, Michael Browning, Siobhan Burns, Anita Chandra, Nichola Cooper, Sophie Davies, Lisa Devlin, Elizabeth Drewe, David Edgar, William Egner, Rohit Ghurye, Kimberley Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Aarnoud Huissoon, Stephen Jolles, Peter Kelleher, Dinakantha Kumararatne, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Sai Murng, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark Ponsford, Waseem Qasim, Isabella Quinti, Alex Richter, Crina Samarghitean, Ravishankar Sargur, Sinisa Savic, Suranjith Seneviratne, Carrock Sewell, Emily Staples, Hans Stauss, James Thaventhiran, Moira Thomas, Steve Welch, Lisa Willcocks, Nigel Yeatman, Patrick Yong, Phil Ancliff, Christian Babbs, Mark Layton, Eleni Louka, Simon McGowan, Adam Mead, Noémi Roy, Jenny Chambers, Peter Dixon, Cecelia Estiu, Bill Hague, Hanns-Ulrich Marschall, Michael Simpson, Sam Chong, Ingrid Emmerson, Lionel Ginsberg, David Gosal, Rob Hadden, Rita Horvath, Mohamed Mahdi-Rogers, Adnan Manzur, Andrew Marshall, Emma Matthews, Mark McCarthy, Mary Reilly, Tara Renton, Andrew Rice, Andreas Themistocleous, Tom Vale, Natalie Van Zuydam, Suellen Walker, Liz Ormondroyd, Gavin Hudson, Wei Wei, Patrick Yu Wai Man, James Whitworth, Maryam Afzal, Elizabeth Colby, Moin Saleem, Omid S. Alavijeh, H. Terry Cook, Sally Johnson, Adam P. Levine, Edwin K.S. Wong, Rhea Tan, Alex MacKenzie, Jacek Majewski, Michael Brudno, Dennis Bulman, David Dyment

المساهمون: Freson, Kathleen, Peerlinck, Kathelijne, Van Geet, Christel, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, MUMC+: DA CDL Algemeen (9), Med Microbiol, Infect Dis & Infect Prev, Medical Research Council (MRC), Clinical Cognitive Neuropsychiatry Research Program (CCNP), APH - Aging & Later Life, Pediatric surgery, Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer biology and immunology, CCA - Cancer Treatment and quality of life, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, APH - Quality of Care, Molecular cell biology and Immunology

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001Test
NIHR BioResource & Care4Rare Canada Consortium 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ', American journal of human genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001Test
American Journal of Human Genetics, 103, 1, pp. 144-153
American journal of human genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics, 103, 144-153
American Journal of Human Genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 103(1), 144-153. CELL PRESS

مصطلحات موضوعية: 0301 basic medicine, Male, Care4Rare Canada Consortium, WAVE FAMILY PROTEINS, actin cytoskeleton, PROTEIN, HDE NEU PED, medicine.disease_cause, Whole Exome Sequencing, 0302 clinical medicine, Neurodevelopmental disorder, SYNAPTIC PLASTICITY, Intellectual disability, WAVE1 complex, PLASTICITY, EXCHANGE, 11 Medical and Health Sciences, Exome sequencing, Genetics (clinical), seizures, Genetics & Heredity, Genetics, Mutation, WASF1, DENDRITIC SPINES, developmental delay, Female, DISEASE GENE-DISCOVERY, Adult, Heterozygote, GENES, DISORDERS, autism, Biology, ACTIN, 03 medical and health sciences, Young Adult, Seizures, Report, Intellectual Disability, Exome Sequencing, medicine, Humans, PROTRUSIONS, recurrent de novo truncating mutations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, lamellipodia, neurodevelopmental disorder, Actin remodeling, Heterozygote advantage, NIHR BioResource, 06 Biological Sciences, medicine.disease, Actin cytoskeleton, Wiskott-Aldrich Syndrome Protein Family, 030104 developmental biology, WAVE, RETARDATION, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e43f56c5f8f4fc2a8ec6c48ba94bc318Test
https://lirias.kuleuven.be/handle/123456789/625653Test

المؤلفون: Ibrahim Eker, Maria Luisa Lozano, Erica De Candia, Emanuela Falcinelli, Barbara Zieger, Paquita Nurden, Claire Flaujac, Cristina Santoro, Rezan A. Kadir, Marco Cattaneo, Gian Marco Podda, Fabrizio Fabris, James B. Bussel, Patrizia Noris, Federica Melazzini, Alberto Tosetto, Andrew D Mumford, Koji Miyazaki, Nora C. Butta, Sophie Bayart, Paula G. Heller, Alessandro Pecci, Pamela Zúñiga, Gul Nihal Ozdemir, Yvonne M. C. Henskens, Rémi Favier, Ana Rosa Cid, Michele P. Lambert, Ana C. Glembotsky, Loredana Bury, Nuria Bermejo, Nicole Schlegel, Paolo Gresele, Marc Fouassier, Sara Orsini, Emmanuel de Maistre

المساهمون: RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, MUMC+: DA CDL Algemeen (9)

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Haematologica
Haematologica-the Hematology Journal, 102(7), 1192-1203. Ferrata Storti Foundation

مصطلحات موضوعية: Excessive Bleeding, Male, PERIOPERATIVE MANAGEMENT, Premedication, 030204 cardiovascular system & hematology, Hemorrhagic disorder, Bernard–Soulier syndrome, 0302 clinical medicine, Postoperative Complications, Risk Factors, Antifibrinolytic agent, HERMANSKY-PUDLAK-SYNDROME, Desmopressin, Child, Aged, 80 and over, DIFFERENT FORMS, Incidence, Hematology, Middle Aged, Treatment Outcome, Child, Preschool, Surgical Procedures, Operative, Female, medicine.drug, VON-WILLEBRAND-DISEASE, Adult, medicine.medical_specialty, Adolescent, Platelet disorder, ELTROMBOPAG, Hemorrhage, DIAGNOSIS, BERNARD-SOULIER-SYNDROME, Risk Assessment, Article, 03 medical and health sciences, Young Adult, FACTOR-VII, medicine, Von Willebrand disease, Platelet Biology & Its Disorders, Humans, GLANZMANN THROMBASTHENIA, Aged, business.industry, THROMBOCYTOPENIA, medicine.disease, Surgery, Patient Outcome Assessment, Blood Platelet Disorders, Complication, business, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbb7b2ba9bfeafaf79479ef37d4ff728Test
http://hdl.handle.net/11573/986876Test

المؤلفون: Paula G. Heller, Loredana Bury, Catherine Trichet, Nuria Pujol-Moix, Alessandro Pecci, Fabrizio Fabris, Maria Luigia Randi, Ana C. Glembotsky, Marco Cattaneo, Adam Cuker, Jeanne-Yvonne Borg, Nathalie Trillot, James B. Bussel, Patrizia Noris, E Muniz-Diaz, François Lanza, Lucia Dora Notarangelo, Dominique Martin-Coignard, Anne Bauters, Paolo Gresele, Thomas Lecompte, Catherine Klersy, Sandra Mercier, Giuseppe Loffredo, Marie-Françoise Hurtaud-Roux, Véronique Le Cam Duchez, Emanuela Falcinelli, Nicole Schlegel, Erica De Candia, Dino Veneri, Schéhérazade Benabdallah-Guedira, Fanny Menard, Catherine Pouymayou, Ilaria Nichele, Chloé James, Michela Faleschini, Elisa Civaschi, Caterina Marconi, Roberta Bottega, Tommaso Pippucci, Pierre Sié, Sophie Bayart, Béatrice Saposnik, Daniela De Rocco, Rémi Favier, Françoise Boehlen, Pierre Fontana, Alina Ferster, Anna Savoia, Carlo L. Balduini, Pamela Magini, Bruno Royer, Véronique Latger-Cannard, Alessandra Tucci, Dominique Fleury, Agnes Rigouzzo, Tiziana Fierro, Gian Marco Podda, Emmanuel de Maistre, Silvia Ferrari, Paquita Nurden, Pietro Minuz, Andreas Greinacher, Virginie Siguret, A. M. Mezzasoma

المساهمون: Patrizia, Nori, Nicole, Schlegel, Catherine, Klersy, Paula G., Heller, Elisa, Civaschi, Nuria Pujol, Moix, Fabrizio, Fabri, Remi, Favier, Paolo, Gresele, Véronique Latger, Cannard, Adam, Cuker, Paquita, Nurden, Andreas, Greinacher, Marco, Cattaneo, Erica De, Candia, Alessandro, Pecci, Marie Françoise Hurtaud, Roux, Ana C., Glembotsky, Eduardo Muñiz, Diaz, Maria Luigia, Randi, Nathalie, Trillot, Loredana, Bury, Thomas, Lecompte, Caterina, Marconi, Savoia, Anna, Carlo L., Balduini, Sophie, Bayart, Anne, Bauter, Schéhérazade Benabdallah, Guedira, Françoise, Boehlen, Jeanne Yvonne, Borg, Bottega, Roberta, James, Bussel, DE ROCCO, Daniela, Emmanuel de, Maistre, Faleschini, Michela, Emanuela, Falcinelli, Silvia, Ferrari, Alina, Ferster, Tiziana, Fierro, Dominique, Fleury, Pierre, Fontana, Chloé, Jame, Francois, Lanza, Véronique Le Cam, Duchez, Giuseppe, Loffredo, Pamela, Magini, Dominique Martin, Coignard, Fanny, Menard, Sandra, Mercier, Annamaria, Mezzasoma, Pietro, Minuz, Ilaria, Nichele, Lucia D., Notarangelo, Tommaso, Pippucci, Gian Marco, Podda, Catherine, Pouymayou, Agnes, Rigouzzo, Bruno, Royer, Pierre, Sie, Virginie, Siguret, Catherine, Trichet, Alessandra, Tucci, Béatrice, Saposnik, Dino, Veneri, Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL

المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
HAEMATOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Haematologica, Vol. 99, No 8 (2014) pp. 1387-94

مصطلحات موضوعية: Pediatrics, Blood transfusion, medicine.medical_treatment, PLAQUETAS, Medicina Clínica, Retrospective Studie, Pregnancy, purl.org/becyt/ford/3.2 [https], inherited thrombocytopenia, Young adult, ddc:616, education.field_of_study, Hematology, Medicine (all), TROMBOCITOPENIA, Articles, platelets, purl.org/becyt/ford/3 [https], Female, Medicina Critica y de Emergencia, Human, Adult, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Population, Humans, Infant, Newborn, Pregnancy Complications, Hematologic, Retrospective Studies, Thrombocytopenia, Young Adult, NO, bleeding risk, Hematologic, Internal medicine, medicine, education, Fetus, Hysterectomy, business.industry, Inherited thrombocytopenias, DIÁMETRO PLAQUETARIO, Infant, Retrospective cohort study, pregnancy, medicine.disease, Newborn, Pregnancy Complications, Settore MED/15 - MALATTIE DEL SANGUE, HEREDITARIA, business

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee02baeb355d1552e96f4249ac1853eTest
http://hdl.handle.net/11368/2846527Test

المؤلفون: Tiziana Fierro, Sara Orsini, Paolo Gresele, Stefania Momi, Anna Bartolini, Anna Maria Mezzasoma, Carlo Cagini, Emanuela Falcinelli, Giuseppe Guglielmini

مصطلحات موضوعية: Adult, Male, Eye Hemorrhage, medicine.medical_specialty, conjunctival disease, Clinical Biochemistry, Population, 030204 cardiovascular system & hematology, blood clotting, factor XIII, hemorrhage, hemostasis, Gastroenterology, Hemostatics, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Internal medicine, Prevalence, Von Willebrand disease, Humans, Medicine, Platelet, Young adult, education, Aged, Aged, 80 and over, education.field_of_study, business.industry, Biochemistry (medical), General Medicine, Middle Aged, Factor XIII, medicine.disease, Surgery, Hemostasis, Concomitant, Female, Subconjunctival hemorrhage, business, 030215 immunology, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9aeef3289487333aa5bbafc473849d1Test
http://hdl.handle.net/11391/1353359Test

المؤلفون: Marco Benazzo, Paolo Gresele, Henricus P. M. Kunst, Nuria Pujol-Moix, Alessandro Pecci, Tiziana Fierro, Patrick L. M. Huygen, Anna Savoia, Eva J J Verver, Paula G. Heller, Vedat Topsakal, Wilko Grolman

المساهمون: Verver, Eva J. J., Topsakal, Vedat, Kunst, Henricus P. M., Huygen, Patrick L. M., Heller, Paula G., Pujol Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro, Surgical clinical sciences, Ear, nose & throat

المصدر: Ear and Hearing, 37, 1, pp. 112-20
Ear and Hearing, 37, 112-20
Ear and Hearing, 37(1), 112. Lippincott Williams and Wilkins
EAR AND HEARING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: Male, Pathology, retrospective study, Medicina Clínica, Disease, Sensorineural, Severity of Illness Index, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genotype phenotype, Retrospective Studie, genetics, Young adult, Child, pathophysiology, disease course, Molecular Motor Proteins, Hearing Loss, Sensorineural/complications, Otorhinolaryngology2734 Pathology and Forensic Medicine, MYH9 protein, human, cohort analysis, Nonmuscle myosin, molecular motor, Sensorineural hearing loss, Genotype–phenotype, Age-related typical audiogram, MYH9-related disease, Syndromic deafness, Thrombocytopenia, Adolescent, Adult, Aged, Audiometry, Pure-Tone, Child, Preschool, Cohort Studies, Cross-Sectional Studies, Disease Progression, Female, Genotype, Hearing Loss, Sensorineural, Humans, Middle Aged, Mutation, Myosin Heavy Chains, Phenotype, Retrospective Studies, Young Adult, 3616, Cohort studies, Medicina Critica y de Emergencia, pure tone audiometry, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, medicine.medical_specialty, Hearing loss, complication, Nephropathy, 03 medical and health sciences, Speech and Hearing, Audiometry, Severity of illness, otorhinolaryngologic diseases, cross-sectional study, Hearing Loss, Cross-Sectional Studie, medicine.disease, Molecular Motor Protein, 030104 developmental biology, Otorhinolaryngology, mutation, 0301 basic medicine, Molecular Motor Proteins/genetics, Sensory disorders Radboud Institute for Health Sciences [Radboudumc 12], preschool child, surgery, Non-U.S. Gov't, Research Support, Non-U.S. Gov't, Syndromic deafne, young adult, medicine.symptom, CIENCIAS MÉDICAS Y DE LA SALUD, Child, preschool, Thrombocytopenia/complications, Research Support, Myosin Heavy Chains/genetics, Internal medicine, Journal Article, medicine, Preschool, business.industry, Myosin Heavy Chain, Retrospective cohort study, Sensorineural hearing lo, Cohort Studie, business, Pure-Tone

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd75f4d01e8ead4ece162460cd29c0fTest
http://journals.lww.com/ear-hearing/pages/articleviewer.aspx?year=2016&issue=01000&article=00012&type=abstractTest

المؤلفون: Valeria Bozzi, Tiziana Fierro, Paolo Gresele, Patrizia Noris, Federica Melazzini, Alessandro Pecci, Anna Savoia, Catherine Klersy, Carlo L. Balduini, Anna Maria Mezzasoma

المساهمون: Pecci, A., Gresele, P., Klersy, C., Savoia, Anna, Noris, P., Fierro, T., Bozzi, V., Mezzasoma, A. M., Melazzini, F., Balduini, C. L.

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Platelet Aggregation, Immunology, Eltrombopag, Administration, Oral, Thrombopoietin mimetics, Benzoates, terapia, Biochemistry, Gastroenterology, Young Adult, chemistry.chemical_compound, Internal medicine, medicine, Humans, media_common.cataloged_instance, Genetic Predisposition to Disease, Platelet, European union, Thrombopoietin, media_common, Thrombopoietin receptor, Dose-Response Relationship, Drug, Myosin Heavy Chains, Thrombocytosis, Platelet Count, business.industry, Molecular Motor Proteins, Cell Biology, Hematology, medicine.disease, Thrombocytopenia, Survival Rate, Hydrazines, Treatment Outcome, Platelet transfusion, chemistry, Mutation, Pyrazoles, Female, Malattia associata a MYH9, business, Receptors, Thrombopoietin

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a80fd920970c3f33d7b8a2be7c05ff5Test
https://doi.org/10.1182/blood-2010-08-304725Test

المؤلفون: Stefania Momi, Paolo Gresele, Paola Lucidi, Geremia B. Bolli, Stefania Marzotti, Silvia Giannini, Pietro Minuz, Giuseppe Guglielmini

المصدر: Diabetes Care

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Platelet Aggregation, type 2 diabetes mellitus, platelets, nitric oxide, Emerging Treatments and Technologies, Endocrinology, Diabetes and Metabolism, Type 2 diabetes, Nitric oxide, Young Adult, chemistry.chemical_compound, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Nitric Oxide Donors, Platelet, Antipyretic, Platelet activation, Original Research, Aged, Advanced and Specialized Nursing, Aspirin, business.industry, Middle Aged, Flow Cytometry, Platelet Activation, medicine.disease, Endocrinology, chemistry, Hyperglycemia, Platelet aggregation inhibitor, Female, business, Platelet Aggregation Inhibitors, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57e07b2d031d8964b164c6c984c6367bTest
https://doi.org/10.2337/dc09-2013Test