المؤلفون: Nina Powell-Hamilton, Chelsea Kois, Shannon Nees

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101310- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424004564Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/61e1dd29ff2841d7b700254b2f268999Test

المؤلفون: Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni

المصدر: Neurology

مصطلحات موضوعية: Neurology (clinical), Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee873a2680827d73e98bae9d821331c5Test
https://pubmed.ncbi.nlm.nih.gov/35835557Test

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: Christine M. Eng, Judy Holtzman, Kathryn G. Miller, Jignesh Chandarana, James R. Lupski, Alicia Braxton, Shalini N. Jhangiani, Francesco Vetrini, Chelsea Kois, Donna M. Muzny, Virginia Sack, Richard A. Gibbs, Mohammad K. Eldomery, Asha Rijhsinghani, Zeynep Coban Akdemir, Neil A. Hanchard, John W. Belmont, Natasha Shur, Mahshid S. Azamian, Jill A. Rosenfeld, Tamar Harel, Lisa C.A. D'Alessandro, Yan Ding, Yaping Yang

المصدر: American journal of human genetics. 99(4)

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Models, Molecular, Heart malformation, RNA Splicing, Amino Acid Motifs, Mutation, Missense, Oryzias, Situs ambiguus, 030105 genetics & heredity, Biology, Heterotaxy Syndrome, Functional Laterality, 03 medical and health sciences, Mice, Report, Genetics, medicine, Missense mutation, Animals, Humans, Exome, Amino Acid Sequence, Cysteine, Allele, Caenorhabditis elegans, Genetics (clinical), Loss function, Alleles, PKD1, Homozygote, Intron, Infant, Newborn, Membrane Proteins, Middle Aged, medicine.disease, Situs Inversus, Introns, Pedigree, Situs inversus, Fetal Diseases, 030104 developmental biology, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad7599106bd4f8df9424697b3fbea1bTest
https://pubmed.ncbi.nlm.nih.gov/27616478Test