-
1
المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
المساهمون: Jackson, A., Lin, S. -J., Jones, E. A., Chandler, K. E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W. D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, O., Haack, T. B., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Matalonga, L., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Ben Yaou, R., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Hanna, M., Houlden, H., Reilly, M., Vandrovcova, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., Van de Vondel, L., Beijer, D., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Balicza, P., Molnar, M. J., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., Macaya, A., Marce-Grau, A., Osorio, A. N., Natera de Benito, D., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Rodriguez Cruz, P. M., Hackman, P., Johari, M., Savarese, M., Udd, B., Horvath, R., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., Rump, A., Varshney, G. K.
المصدر: Genomics England Research Consortium, Jackson, A, Lin, S-J, Jones, E A, Chandler, K E, Orr, D, Moss, C, Haider, Z, Ryan, G, Harrison, M, Burrows, N, Jones, W D, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Varshney, G K & Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186, pp. 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
HGG Adv
HGG Advances, 4, 2مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Hypodontia, Closca, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Ectodermal dysplasia, TSPEAR, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Conical teeth, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Enamel knot, Autosomal recessive ectodermal dysplasia type 14, WNT10A, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Extracellular matrix dependant signalling, Molecular Medicine, zebrafish fin regeneration, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a406c5a168d5b00147c9f04b9014ef2Test
https://doi.org/10.1016/j.xhgg.2023.100186Test -
2
المؤلفون: Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham
المصدر: International Journal of Neonatal Screening, 8(2). MDPI
مصطلحات موضوعية: Europe, NBS, Immunology and Microbiology (miscellaneous), newborn screening, Pediatrics, Perinatology and Child Health, Slovenia, Obstetrics and Gynecology, rare diseases, meeting, access inequality
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07eb7cc8f1dedd3e9094bc9bbe7f925cTest
http://hdl.handle.net/1887/3575944Test -
3
المؤلفون: M. G. Şimşek, Gulcin Gumus, Şeref Turhan, Temel Kan Bakır, Orhan Destanoğlu
المصدر: International Journal of Environmental Analytical Chemistry. 103:1855-1865
مصطلحات موضوعية: Mineral, Health, Toxicology and Mutagenesis, 010401 analytical chemistry, Ion chromatography, Public Health, Environmental and Occupational Health, Soil Science, 010501 environmental sciences, Natural mineral, Phosphate, 01 natural sciences, Pollution, Oxalate, 0104 chemical sciences, Analytical Chemistry, chemistry.chemical_compound, chemistry, Nitrate, Environmental chemistry, Environmental Chemistry, Nitrite, Waste Management and Disposal, Fluoride, 0105 earth and related environmental sciences, Water Science and Technology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::be5215deeb2849643a5f55d8acde30a2Test
https://doi.org/10.1080/03067319.2021.1884239Test -
4
المؤلفون: Patrick M. Bernet, Gulcin Gumus, Sharmila Vishwasrao
المصدر: Milbank Q
مصطلحات موضوعية: Adult, Longitudinal study, medicine.medical_specialty, Original Scholarship, Public health interventions, Context (language use), 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Humans, Medicine, Maternal health, Longitudinal Studies, 030212 general & internal medicine, Endogeneity, business.industry, 030503 health policy & services, Health Policy, Public health, Mortality rate, Public Health, Environmental and Occupational Health, United States, Maternal Mortality, Florida, Public Health Practice, Female, 0305 other medical science, business, Developed country, Demography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5a56aeab2f888b2d7dff1cffc211eeTest
https://doi.org/10.1111/1468-0009.12442Test -
5
المؤلفون: Steven Laurie, Teresinha Evangelista, Gulcin Gumus, Angela Lochmüller, Patrick F. Chinnery, Leigh C. Carmody, Gisèle Bonne, Hanns Lochmüller, Matthew J. Jennings, Thiloka Ratnaike, Rachel Thompson, Holm Graessner, Sergi Beltran, Leslie Matalonga, Carles Hernandez-Ferrer, Katherine Schon, Jean-François Desaphy, Peter N. Robinson, Virginie Bros-Facer, Carola Reinhard, Alberto Corvo, Rita Horvath, Matthis Synofzik, Bertrand Fontaine, Antonio Atalaia, David Gómez-Andrés, Davide Piscia, Katja Lohmann, Rabah Ben Yaou, Alfons Macaya, Olaf Riess, Birte Zurek
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
Orphanet journal of rare diseases 16(1), 145 (2021). doi:10.1186/s13023-021-01777-6مصطلحات موضوعية: Computer science, Writing, lcsh:R, Pharmacology toxicology, lcsh:Medicine, Correction, General Medicine, Data science, Human genetics, Rare Diseases, Systematic review, Research Design, Humans, Pharmacology (medical), ddc:610, Genetics (clinical), Data Management, Systematic Reviews as Topic, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee7f1a6694da6ec27b40c8e57474951Test
https://doi.org/10.1186/s13023-021-01777-6Test -
6
المؤلفون: gulcin gumus, Mattias Mörgelin, Olga Romantsik, Stefan R. Hansson, Sigurbjörg Rutardottir, Snjolaug Sveinsdottir, Magnus Gram, Helena Karlsson, Bo Åkerström, Alex Adusei Agyemang, Magnus Cinthio, Bo Holmqvist, David Ley
المصدر: Journal of Neuroinflammation, Vol 16, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Immunology, Germinal matrix, Brain damage, medicine.disease_cause, Neuroprotection, lcsh:RC346-429, Proinflammatory cytokine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Internal medicine, Extracellular, Medicine, Hemoglobin, lcsh:Neurology. Diseases of the nervous system, business.industry, General Neuroscience, α1-microglobulin, Preterm intraventricular hemorrhage, medicine.disease, 030104 developmental biology, Intraventricular hemorrhage, Endocrinology, Neurology, Oxidative stress, medicine.symptom, business, Damage to the immature brain, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5691574f1956bd1255bb14f3b14a524Test
http://link.springer.com/article/10.1186/s12974-019-1486-4Test -
7
المؤلفون: Matteo Bruschettini, Helena Karlsson, Olga Romantsik, R. Sandgren, Magnus Gram, Hatice Gulcin Gumus, Suvi Vallius, Alex Adusei Agyemang, David Ley, D.L.A. van den Hove
المساهمون: RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie
المصدر: Behavioural Brain Research, 353, 236-241. Elsevier Science
مصطلحات موضوعية: Male, 0301 basic medicine, Litter (animal), medicine.medical_specialty, Litter Size, Birth weight, Short-term memory, Olfactory stimuli, Development, Motor Activity, Audiology, Open field, 03 medical and health sciences, Behavioral Neuroscience, Discrimination, Psychological, 0302 clinical medicine, medicine, ALBINO RABBIT, Animals, Cognitive neuroscience of visual object recognition, Recognition, Psychology, Cognition, Olfactory Perception, Object (computer science), EXTINCTION, 030104 developmental biology, Research Design, Sample size determination, Short term memory, Behavior Rating Scale, Exploratory Behavior, Object recognition memory, Female, Rabbits, Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::691f6dd42daa58ea9f3030ab9b9e9187Test
https://doi.org/10.1016/j.bbr.2018.02.032Test -
8
المؤلفون: Michael T. French, Gulcin Gumus
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: medicine.medical_specialty, History, Health (social science), Polymers and Plastics, media_common.quotation_subject, Work related, Occupational safety and health, Industrial and Manufacturing Engineering, Great recession, 03 medical and health sciences, 0302 clinical medicine, History and Philosophy of Science, Business cycle, medicine, Humans, 030212 general & internal medicine, Business and International Management, media_common, 030503 health policy & services, Public health, Accidents, Traffic, Quarter (United States coin), Work (electrical), Unemployment, Demographic economics, Business, 0305 other medical science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1364b9088469a9bcb7e693b6ed3d1b87Test
https://doi.org/10.2139/ssrn.3841905Test -
9
المؤلفون: Elena Demicheva, David Ley, Hatice Gulcin Gumus, Fatima Crispi, Laura Pla, Eduard Gratacós, Miriam Illa, Anna Ayuste González
المصدر: Gynecologic and Obstetric Investigation. 83:116-123
مصطلحات موضوعية: medicine.medical_specialty, Ultrasonography, Prenatal, Injections, Random Allocation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Animal model, Pregnancy, Animals, Medicine, Amnion, Fluorescein, Coloring Agents, Evans Blue, Fetus, 030219 obstetrics & reproductive medicine, Staining and Labeling, business.industry, Uterus, Ultrasound, Obstetrics and Gynecology, Embryo, Mammalian, medicine.disease, Ultrasound guided, Rats, Surgery, Reproductive Medicine, chemistry, 030220 oncology & carcinogenesis, Anesthesia, Gestation, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::635ec78fe15ed1c558f1f6f8a70840b5Test
https://doi.org/10.1159/000454766Test -
10
المؤلفون: Olga, Romantsik, Alex Adusei, Agyemang, Snjolaug, Sveinsdóttir, Sigurbjörg, Rutardóttir, Bo, Holmqvist, Magnus, Cinthio, Mattias, Mörgelin, Gulcin, Gumus, Helena, Karlsson, Stefan R, Hansson, Bo, Åkerström, David, Ley, Magnus, Gram
المصدر: Journal of Neuroinflammation
مصطلحات موضوعية: Male, Research, Brain, α1-microglobulin, Free Radical Scavengers, Random Allocation, Animals, Newborn, Intraventricular hemorrhage, Pregnancy, Oxidative stress, Alpha-Globulins, Animals, Humans, Premature Birth, Female, Rabbits, Hemoglobin, Damage to the immature brain, Cerebral Intraventricular Hemorrhage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::41f60a7c0bd1bfb73666c64bd5d22250Test
https://pubmed.ncbi.nlm.nih.gov/31174551Test