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المؤلفون: Alan Fryer, Rolph Pfundt, Lori A. Carpenter, Susan M. White, Kirsten P. Forbes, Daniela T. Pilz, Nava Shaul-Lotan, Andrew E. Fry, Anthonie J. van Essen, Amy E. Roberts, A. Micheil Innes, Katherine A. Fawcett, Beatriz Paumard-Hernández, Michael Wright, Peter D. Turnpenny, Blanca Gener, Richard Caswell, Lindsay B. Henderson, Romana Gjergja-Juraski, Melissa Sloman, Wendy K. Chung, Karen E. Heath, G. Bradley Schaefer, Heather M. McLaughlin, Erica H. Gerkes
المصدر: American Journal of Human Genetics, 103(5), 786-793. CELL PRESS
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103, 786-793
American Journal of Human Genetics, 103, 5, pp. 786-793مصطلحات موضوعية: 0301 basic medicine, EXPRESSION, PCGF2, Polycomb Group Ring Finger 2, MEL-18, Mutant, dysmorphism, PROTEIN, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Report, Histone H2A, Genetics, Gene silencing, Missense mutation, polymicrogyria, Craniofacial, SPECIFICATION, Gene, MEL18, intellectual disability, Genetics (clinical), CYCLIN D2, UBIQUITYLATION, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], biology, REPRESSION, Correction, Phenotype, GENE, 030104 developmental biology, Histone, 030220 oncology & carcinogenesis, biology.protein, HISTONE H2A, STEM-CELLS
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b42653bf0678df6d6b3a18f4c5e210bdTest
https://hdl.handle.net/2066/197694Test -
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المؤلفون: Daniela T. Pilz, Anna De Burca, David R. FitzPatrick, Ddd Study, Pedro Louro, Jill Clayton Smith, Mira Kharbanda, Victoria McKay, Susan Tomkins, Kate Chandler, Usha Kini, Anand Saggar, John Burn, Esther Kinning, Alan Fryer
المصدر: Kharbanda, M, Pilz, D T, Tomkins, S, Chandler, K, Saggar, A, Fryer, A, McKay, V, Louro, P, Smith, J C, Burn, J, Kini, U, De Burca, A & FitzPatrick, D R & Kinning, E 2017, ' Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals ', European journal of medical genetics, vol. 60, no. 2, pp. 130-135 . https://doi.org/10.1016/j.ejmg.2016.11.008Test
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Adolescent, Developmental Disabilities, Haploinsufficiency, 030105 genetics & heredity, Central hypotonia, Biology, Article, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Exome, Spasticity, Child, beta Catenin, Genetics (clinical), Loss function, Exome sequencing, integumentary system, Sequence Analysis, DNA, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, medicine.symptom
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b08e1fede96c928c6dbbe62ae594f7Test
https://doi.org/10.1016/j.ejmg.2016.11.008Test -
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المؤلفون: Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N.M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Steve E. Humphries, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin Small, Lorraine Southam, Olivera Spasic-Boskovic, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Peter M. Visscher, Louise V. Wain, James T.R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Jenny Carmichael, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Roger James, Stephen Jolles, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Michel Michaelides, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Alasdair Parker, John Pasi, Chris Patch, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Ivy Wanjiku, Timothy Q. Warner, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu
المساهمون: Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pediatric surgery, APH - Aging & Later Life, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, APH - Quality of Care
المصدر: Gorman, K M, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, K J, Bryant, E, Reich, A, Schneider, A L, Pressler, R M, Simpson, M A, Debelle, G D, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, A R, King, M D, Cross, J H, Poduri, A, Mefford, H C, Scheffer, I E, Haack, T B, McCullagh, G, Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Millichap, J J, Carvill, G L, Clayton-Smith, J, Maher, E R, Raymond, F L & Kurian, M A 2019, ' Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia ', American journal of human genetics, vol. 104, no. 5, pp. 948-956 . https://doi.org/10.1016/j.ajhg.2019.03.005Test
American journal of human genetics, 104(5), 948-956. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Loss of Heterozygosity, Context (language use), Postnatal microcephaly, Neurotransmission, medicine.disease_cause, Bioinformatics, Synaptic Transmission, Loss of heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Calcium Channels, N-Type, Report, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Dyskinesias, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Dyskinesia, Child, Preschool, Calcium, Female, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f62e4ecd23096c1d8075fa84911841Test
https://pubmed.ncbi.nlm.nih.gov/30982612Test -
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المؤلفون: Susan E. Holder, Claudio Graziano, Véronique Lefebvre, Joshua D. Smith, Ash Zawerton, Lisa Wischmann, Susanne J. Kühl, John Dean, Tommaso Pippucci, J. Paige Yeager, Deciphering Developmental Disorders Study, Daniela T. Pilz, Baojin Yao, Abdul Haseeb, Alisdair McNeill
المصدر: American journal of human genetics. 104(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Transcriptional Activation, Heterozygote, In silico, Xenopus, Mutation, Missense, Biology, Xenopus Proteins, Article, SOXC Transcription Factors, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Genetics, Coffin-Lowry Syndrome, Missense mutation, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Child, Transcription factor, Exome sequencing, Genetics (clinical), Conserved Sequence, SOX Transcription Factors, Reporter gene, Neurogenesis, Correction, DNA, medicine.disease, biology.organism_classification, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, HMG-Box Domains, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fc470316e6d77206c7ec3a8e6181974Test
https://pubmed.ncbi.nlm.nih.gov/30951678Test -
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المؤلفون: Simon G. Williams, Stavit A. Shalev, Neil A. Roberts, James O'Sullivan, Sanjeev S. Bhaskar, Daniela T. Pilz, Morad Khayat, Jill E. Urquhart, Andrew E. Fry, Glenda M. Beaman, William G. Newman, Elena Chervinsky, I.B. Shachar, N. Simanovsky, H. Byers
المصدر: Clinical Genetics. 89:724-727
مصطلحات موضوعية: 0301 basic medicine, Genetics, Microcephaly, Pachygyria, Doublesex, Lissencephaly, Biology, medicine.disease, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Agenesis of the corpus callosum, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0600e697f4d58f64cd108bd6fa86b03aTest
https://doi.org/10.1111/cge.12734Test -
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المؤلفون: Valentina Folgiero, Heinz Jungbluth, Daniela T. Pilz, Franco Locatelli, Evangelos Axiotis, Chiara Farroni, Stefania Petrini, Valerio D’Alicandro, Carlo Dionisi-Vici, Ulrike Schara, E. Piano Mortari, Rita Carsetti, Diego Martinelli, Chiara Bocci, Paolo Romania, Valentina Marcellini, Rosalba Carrozzo, Emanuele Bellacchio
المصدر: Autophagy. 14(1)
مصطلحات موضوعية: 0301 basic medicine, Research Paper - Basic Science, Medizin, Vesicular Transport Proteins, Autophagy-Related Proteins, Endosomes, Biology, Adaptive Immunity, Cataract, Cell Line, 03 medical and health sciences, TLR9, Immune system, medicine, memory B cells, Autophagy, Humans, Vici syndrome, Molecular Biology, B-Lymphocytes, Lysosome-Associated Membrane Glycoproteins, Proteins, Biological Transport, Cell Biology, DNA, Acquired immune system, medicine.disease, Immunity, Innate, Cell biology, EPG5, 030104 developmental biology, Endosomal trafficking, CpG site, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Toll-Like Receptor 9, epg5, tlr9, vici syndrome, endosomal trafficking, memory b cells, Mutation, Nucleic acid, RNA, Agenesis of Corpus Callosum, Lysosomes, Intracellular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2498a93368e841b35bd4333a116989aTest
https://pubmed.ncbi.nlm.nih.gov/29130391Test -
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المؤلفون: Daniela T. Pilz, Thomas D. Cushion, Andrew E. Fry
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:198-210
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Brain development, business.industry, Genetic counseling, Pachygyria, Lissencephaly, macromolecular substances, medicine.disease, Phenotype, PAFAH1B1, medicine.anatomical_structure, Cerebral cortex, Genetics, medicine, In patient, business, Neuroscience, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a3526e3d6bd8f89476ff11daf15185fTest
https://doi.org/10.1002/ajmg.c.31402Test -
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المؤلفون: Arthur S. Aylsworth, Jonathan G. L. Mullins, Daniela T. Pilz, Gökhan Uyanik, Ute Hehr, Roxana Gunny, Seo-Kyung Chung, Thomas D. Cushion, William B. Dobyns, Prab Prabhakar, Julia Rankin, Andrew E. Fry, Mark I. Rees, Neil Stoodley
المصدر: Brain. 136:536-548
مصطلحات موضوعية: Internal capsule, Lissencephaly, Biology, Grey matter, Cortical dysplasia, medicine.disease, Hypoplasia, medicine.anatomical_structure, Cerebral cortex, medicine, Polymicrogyria, Neurology (clinical), Cerebellar hypoplasia, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18ab314c45eea1c68803799d5c606e55Test
https://doi.org/10.1093/brain/aws338Test -
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المؤلفون: Stephen P. Robertson, Daniela T. Pilz, Peter D Turnpenny, Neil Stoodley, Andrew E. Fry, Khalid Hamandi, Michael Patrick Kerr, Frances Gibbon
المصدر: The Journal of Neuropsychiatry and Clinical Neurosciences. 25:26-31
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Adolescent, business.industry, Mental Disorders, Neuronal migration, Magnetic Resonance Imaging, Young Adult, Psychiatry and Mental health, Periventricular heterotopia, Periventricular Nodular Heterotopia, medicine, Humans, Female, In patient, Neurology (clinical), Young adult, Psychiatry, business, Neuropsychiatric disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e60c240c3093c7fe63b249b60c410dTest
https://doi.org/10.1176/appi.neuropsych.11110336Test -
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المؤلفون: Karen W. Gripp, Jean-Baptiste Rivière, Alain Verloes, Jean-Pierre Fryns, Michael Marble, Joris A. Veltman, Grazia M.S. Mancini, Christopher T. Sullivan, Susan L. Christian, Marlies Kempers, Joan F. Atkin, Victoria Mok Siu, Valérie Drouin-Garraud, M. Elizabeth Ross, Daniela T. Pilz, Conny M. A. van Ravenswaaij-Arts, Andrew E. Fry, Omar A. Abdul-Rahman, Bregje W.M. van Bon, Jill A. Rosenfeld, Nicolas Chassaing, Brian J. O'Roak, Jay Shendure, Christian Gilissen, Tony Roscioli, S.S. Kholmanskikh, Alexander Hoischen, Han G. Brunner, Bert B.A. de Vries, William B. Dobyns, Małgorzata J.M. Nowaczyk, Sabine Gijsen, Tjitske Kleefstra
المساهمون: Public Health, Clinical Genetics, Ethical, Legal, Social Issues in Genetics (ELSI)
المصدر: Nature Genetics, 44(4), 440-U255. Nature Publishing Group
Nature Genetics, 44, 4, pp. 440-4, S1-2
Nature Genetics; Vol 44
Nature Genetics, 44, 440-4, S1-2
Nature genetics
Paediatrics Publicationsمصطلحات موضوعية: Male, Proband, PTOSIS, Developmental Disabilities, medicine.disease_cause, 0302 clinical medicine, Missense mutation, Child, Exome sequencing, Sequence Deletion, Genetics, 0303 health sciences, Mutation, Brain, Syndrome, Phenotype, Coloboma, GROWTH, Female, Adult, Adolescent, DNA Copy Number Variations, Molecular Sequence Data, Mutation, Missense, DNA-SEQUENCING DATA, NOONAN-SYNDROME, Biology, Nervous System Malformations, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, MALFORMATIONS, Amino Acid Sequence, Gene, Actin, 030304 developmental biology, ACTG1, Base Sequence, IDENTIFICATION, GAMMA-ACTIN, Sequence Analysis, DNA, Actins, IRIS COLOBOMA, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], BETA-ACTIN, PAX9 Transcription Factor, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Sequence Alignment, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: Electronic; text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0138dd6e14fb3e0c15f66dbee60a92Test
https://hdl.handle.net/2066/110786Test