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1دورية أكاديمية
المؤلفون: Kimberly Chapman, Spencer Vause, Seth Berger, Deepika Burkardt, Jamie Fraser, Christina Grant, KeriAnn Kuperman, Amy Lewanda, Darilyn Mahoney, Gabrielle Pomorski, Louise Pyle, Kenneth Rosenbaum, Kiley Quintana, Natasha Shur, Debra Regier
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101081- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002279Test; https://doaj.org/toc/2949-7744Test
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المؤلفون: Natasha Shur, Annie Tigranyan, Carrie Daymont, Debra S. Regier, Sumant Raturi, Tamanna Roshan Lal, Kevin Cleary, Marshall Summar
المصدر: American Journal of Medical Genetics Part A. 191:948-961
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f0a4254ce23d2bcee01402d41135477Test
https://doi.org/10.1002/ajmg.a.63102Test -
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المؤلفون: M. Laura Duque Lasio, Angela C. Leshinski, Nicole H. Ducich, Leigh Anne Flore, April Lehman, Natasha Shur, Parul B. Jayakar, Bryan E. Hainline, Alice A. Basinger, William G. Wilson, George A. Diaz, Richard W. Erbe, Dwight D. Koeberl, Jerry Vockley, Jirair K. Bedoyan
المصدر: Molecular Genetics and Metabolism. 139:107605
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eaeadf39d05523c7fa729dfaf9a625f1Test
https://doi.org/10.1016/j.ymgme.2023.107605Test -
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المؤلفون: Sheng‐Jia Lin, Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill A. Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba A. Ali, Nazif Muhammad, Sher A. Khan, Noor Muhammad, Pengfei Liu, Marie‐Louise Haymon, Franz Rüschendorf, Il‐Keun Kong, Linda Schnapp, Natasha Shur, Lynn Chorich, Lawrence Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung‐Goo Kim, Gaurav K. Varshney
مصطلحات موضوعية: Amino Acyl-tRNA Synthetases, RNA, Transfer, Charcot-Marie-Tooth Disease, Cardiovascular and Metabolic Diseases, Mutation, Genetics, Humans, Tryptophan-tRNA Ligase, Exons, Syndrome, Genetics (clinical), Pedigree
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b88e6caf574781b7bba2fb8678b4ca90Test
http://edoc.mdc-berlin.de/21788/2/21788suppl.zipTest -
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المؤلفون: Sheng‐Jia Lin, Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill A. Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba A. Ali, Nazif Muhammad, Sher A. Khan, Noor Muhammad, Pengfei Liu, Marie‐Louise Haymon, Franz Rüschendorf, Il‐Keun Kong, Linda Schnapp, Natasha Shur, Lynn Chorich, Lawrence Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung‐Goo Kim, Gaurav K. Varshney
المصدر: Human Mutation. 43
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::24707839f91a2b650d3fc4097b91ca3fTest
https://doi.org/10.1002/humu.24464Test -
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المصدر: Pediatric Radiology. 51:1029-1043
مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Physical examination, Geneticist, 030218 nuclear medicine & medical imaging, Natural history, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Medicine, Radiology, Nuclear Medicine and imaging, Medical history, Medical diagnosis, Family history, Differential diagnosis, business, Intensive care medicine, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d3cd011bc814e9a31745e46cc015d3ceTest
https://doi.org/10.1007/s00247-020-04865-0Test -
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المؤلفون: Mari Rossi, Melissa K. Gabriel, Rolph Pfundt, Ange Line Bruel, Sonal Mahida, Daniel Groepper, Kristin W. Barañano, Tjitske Kleefstra, Saskia Brulleman, Charlotte de Konink, Angelika Erwin, Aida Telegrafi, Kristin Lindstrom, Amy Blevins, Marjon van Slegtenhorst, Katherine G. Langley, David A. Koolen, Geeske M. van Woerden, Anna Chassevent, Louisa Kalsner, A. Micheil Innes, Ype Elgersma, David R. FitzPatrick, Kristin G. Monaghan, Allison Goodwin, Ben Distel, Karen W. Gripp, Alice S. Brooks, Natasha Shur, Fatima Rehman, Rossella Avagliano Trezza, Amanda Noyes, Melanie Bos, Jane Juusola, Gwynna de Geus, Jennifer B. Humberson, Andrew O.M. Wilkie, Jessica Hoffman, Marleen Simon, David Johnson, Róisín McCormack, Sumit Punj, Maria J. Guillen Sacoto, Julie Fleischer, Eduardo Calpena, Arthur Sorlin, Allison Schreiber
المساهمون: Clinical Genetics, Neurosciences, Medical Biochemistry, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Human Mutation, 42(4), 445-459. Wiley-Liss Inc.
Human Mutation, 42, 445-459
Human Mutation, 42, 4, pp. 445-459
Human Mutation
Human mutation, 42(4), 445-459. Wiley-Liss Inc.مصطلحات موضوعية: MAP Kinase Signaling System, Biology, Mice, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Intellectual disability, Genetics, medicine, Animals, Humans, Missense mutation, cortical development, Amino Acids, Protein kinase A, Research Articles, Genetics (clinical), Loss function, 030304 developmental biology, 2. Zero hunger, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MAP kinase kinase kinase, Muscular hypotonia, neurodevelopmental disorders, 030305 genetics & heredity, medicine.disease, in utero electroporation, TAOK1, Muscle Hypotonia, Neuroscience, functional genomics, Function (biology), Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd52b60cd16ed1747221a17833ce9f16Test
http://www.scopus.com/inward/record.url?scp=85101812177&partnerID=8YFLogxKTest -
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المؤلفون: Natasha Shur, Andrea J. Cohen, Tamanna R. Roshan Lal, Erin MacLeod, Eyby Leon, Danielle Starin, Debra S Regier
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Telemedicine, Genetics, Medical, Health Personnel, media_common.quotation_subject, Education environment, Telehealth, 030105 genetics & heredity, 03 medical and health sciences, Genetics, medicine, House call, Humans, Genetics(clinical), Quality (business), Child, Set (psychology), Pandemics, Genetics (clinical), Quality of Health Care, media_common, Medical education, Education, Medical, SARS-CoV-2, Pilot programs, COVID-19, Hospitals, Pediatric, Quality Improvement, House Calls, 030104 developmental biology, Medical genetics, Patient Care, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935e6e301a6b0fc1190bad7ab45eaf7Test
https://doi.org/10.1002/ajmg.c.31882Test -
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المصدر: Translational Science of Rare Diseases
مصطلحات موضوعية: hyperdibasic aminoaciduria, medicine.medical_specialty, Dibasic amino aciduria II, business.industry, General Medicine, Ornithine, LPI - lysinuric protein intolerance, SLC7A7, medicine.disease, Gastroenterology, Lysinuric protein intolerance, Hypokalemia, Diarrhea, chemistry.chemical_compound, Parenteral nutrition, chemistry, Internal medicine, Aminoaciduria, Failure to thrive, medicine, Hypoalbuminemia, medicine.symptom, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0d28cb66764fac78503fd26da84872Test
http://europepmc.org/articles/PMC7590902Test -
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المؤلفون: Lynn Pais, Anna Pelet, Wilhelmina S. Kerstjens-Frederikse, Christine Bole-Feysot, Yunia Sribudiani, Stanislas Lyonnet, Natasha Shur, Valérie Cormier-Daire, Louise Galmiche, Cécile Masson, Christopher T. Gordon, Chelsea Kois, Céline Huber, John A. Pugh, Simon Sadedin, Thuy-Linh Le, Nicolas Goudin, Tania Attié-Bitach, Susan M. White, Tiong Yang Tan, Geneviève Baujat, Valérie Serre, Xiaomin Dong, Mohammed Zarhrate, Patrick Nitschke, Jeanne Amiel, John Christodoulou, Frans W. Verheijen, Sophie Thomas, R Hofstra, Salima El Chehadeh, Valerie Mayne
المساهمون: Université Paris Cité (UPC), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Embryology and genetics of human malformation (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies (Equipe Inserm U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Jacques Monod (IJM (UMR_7592)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Genetics and Development of the Cerebral Cortex (Equipe Inserm U1163), Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Paris (UP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Clinical Genetics
المصدر: American Journal of Human Genetics, 106(6), 779-792. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Developmental Disabilities, [SDV]Life Sciences [q-bio], HIRSCHSPRUNG DISEASE, INTRAFLAGELLAR TRANSPORT PROTEIN, ACTIVATION, 0302 clinical medicine, Neoplasms, Sonic hedgehog, Child, Genetics (clinical), Nuclear Proteins, PRIMARY CILIUM, Smoothened Receptor, Hedgehog signaling pathway, Cell biology, Pedigree, Child, Preschool, Female, Signal Transduction, Patched, Nerve Tissue Proteins, Biology, Zinc Finger Protein Gli2, Article, 03 medical and health sciences, HYPOTHALAMIC HAMARTOMA, Zinc Finger Protein Gli3, GLI2, Ciliogenesis, NERVOUS-SYSTEM DEVELOPMENT, Genetics, Humans, Hedgehog Proteins, Cilia, Hedgehog, Alleles, Base Sequence, SONIC HEDGEHOG, MUTATIONS, Infant, CILIARY, 030104 developmental biology, biology.protein, Smoothened, 030217 neurology & neurosurgery, GLI
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1003cc76f77d065c02f6683353a2e2fcTest
https://hdl.handle.net/11370/f3efaa11-0ef7-4727-9a41-8f2f87fed566Test