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 Press

مصطلحات 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

المؤلفون: Conor J. McCann, Megan Davey, Carreno G, Stanislas Lyonnet, Alan J. Burns, David Dora, Nicole Laurent, Jean-Marie Delalande, Julie E. Cooper, Sophie Thomas, Malcolm Logan, R Hofstra, Campbell A, Tania Attié-Bitach, Nandor Nagy, Nikhil Thapar, Kemos P, Allan M. Goldstein, Dipa Natarajan, Caroline Alby

مصطلحات موضوعية: Extracellular matrix, Mutation, Conditional gene knockout, medicine, Neural crest, Enteric nervous system, Embryo, Biology, medicine.disease_cause, Embryonic stem cell, Hedgehog signaling pathway, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::58f39f6e49ac9733f66546d31dc9deafTest
https://doi.org/10.1101/2021.05.28.446103Test

المؤلفون: Erwin Brosens, van der Helm R, Alice S. Brooks, van Bever Y, Conny J.H.M. Meeussen, Windster Jd, Laura E. Kuil, Stanislas Lyonnet, Cornelius E. J. Sloots, Wijnen Rmh, Maria-Mercè Garcia-Barceló, Dick Tibboel, Maria M. Alves, Thuy-Linh Le, de Graaf Bm, MacKenzie Kc, Clara S. Tang, Paul Kh Tam, R Hofstra, de Klein A, Jeanne Amiel, Anwarul Karim

مصطلحات موضوعية: Transcriptome, Genetics, Candidate gene, Haplotype, Epistasis, Enteric nervous system, Disease, Copy-number variation, Biology, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ba9197a3b38c67c1737236746383b2f7Test
https://doi.org/10.1101/2020.11.02.20221481Test

المؤلفون: Tony J. Lough, Khalid Shash, Beatriz Xoconostle-Cázares, Katrina R. Hofstra, David L. Beck, Ezequiel Balmori, Richard L. S. Forster, William J. Lucas

المصدر: Molecular Plant-Microbe Interactions, Vol 11, Iss 8, Pp 801-814 (1998)

مصطلحات موضوعية: macromolecular trafficking, plasmodesmata, Microbiology, QR1-502, Botany, QK1-989

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0894-0282Test; https://doaj.org/toc/1943-7706Test

الوصول الحر: https://doaj.org/article/6c2e17e0fb0948078be60d8fb50bc3b5Test

المؤلفون: I Matera, T Bachetti, F Puppo, M Duca, F Morandi, G.M. Casiraghi, M.R. Cilio, R.C.M. Hennekam, R Hofstra, J.G. Schöber, R. Ravazzolo, G Ottonello, I Ceccherini

المصدر: Journal of Medical Genetics (00222593) vol.41 (2004) nr.5 p.373-380

العلاقة: http://hdl.handle.net/11245/1.231378Test

الإتاحة: http://hdl.handle.net/11245/1.231378Test

المؤلفون: Y. van Bever, Erwin Brosens, Rutger W W Brouwer, Vera K. Martens, W F J van IJcken, H.J. Eussen, N W G van Beelen, Rene M. H. Wijnen, C A Ten Kate, Daphne Huigh, Alice S. Brooks, A. de Klein, R Hofstra, Dick Tibboel, Hanneke IJsselstijn, Tom Brands

المصدر: Diseases of the Esophagus. 32

مصطلحات موضوعية: medicine.medical_specialty, Seesaw molecular geometry, business.industry, Internal medicine, Atresia, Gastroenterology, medicine, In patient, General Medicine, business, medicine.disease, Hypertrophic Pyloric Stenosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f0413ada8375b559277cd1d59c48fb65Test
https://doi.org/10.1093/dote/doz047.32Test

المؤلفون: Warren R. Hofstra

نوع المادة: eBook.

الموضوعات: Country music--Social aspects, Country music--History and criticism

تصنيفات: MUSIC / General, BIOGRAPHY & AUTOBIOGRAPHY / Artists, Architects, Photographers, MUSIC / Genres & Styles / Country & Bluegrass, SOCIAL SCIENCE / Women"s Studies

المؤلفون: C C, LUSHBAUGH, R, HOFSTRA, R E, ROTH, G A, ANDREWS

المصدر: ORINS [reports]. U.S. Atomic Energy Commission. 17

مصطلحات موضوعية: Feeding and Eating Disorders, Male, Vomiting, Humans, Nausea, Radiation Injuries, Radiation Tolerance

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::037ab41991160694c5d1f8ca79267675Test
https://pubmed.ncbi.nlm.nih.gov/24547374Test

المؤلفون: C C, LUSHBAUGH, R, HOFSTRA, R E, ROTH, G A, ANDREWS

المصدر: ORINS [reports]. U.S. Atomic Energy Commission. 17

مصطلحات موضوعية: Research Report, Academies and Institutes, Humans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::695bbe28d9d992f6a837effaf1bd946dTest
https://pubmed.ncbi.nlm.nih.gov/24547375Test

المؤلفون: C C, LUSHBAUGH, R, HOFSTRA, R E, ROTH, G A, ANDREWS

المصدر: ORINS [reports]. U.S. Atomic Energy Commission. 17

مصطلحات موضوعية: Penicillamine, Humans, Bone Marrow Cells, Radiation Injuries

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5e010577cf49ea8ba211f02c22e1a99bTest
https://pubmed.ncbi.nlm.nih.gov/24547376Test