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1دورية أكاديمية
المؤلفون: Daniel S Marchuk, Kristy Crooks, Natasha Strande, Kathleen Kaiser-Rogers, Laura V Milko, Alicia Brandt, Alexandra Arreola, Christian R Tilley, Chris Bizon, Neeta L Vora, Kirk C Wilhelmsen, James P Evans, Jonathan S Berg
المصدر: PLoS ONE, Vol 13, Iss 12, p e0209185 (2018)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
المؤلفون: Andrea G Edlow, Neeta L Vora, Lisa Hui, Heather C Wick, Janet M Cowan, Diana W Bianchi
المصدر: PLoS ONE, Vol 9, Iss 2, p e88661 (2014)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Taylor N. Takla, Jinghui Luo, Roksolana Sudyk, Joy Huang, John Clayton Walker, Neeta L. Vora, Jonathan Z. Sexton, Jack M. Parent, Andrew M. Tidball
المصدر: Cells, Vol 12, Iss 13, p 1697 (2023)
مصطلحات موضوعية: neuroteratogen, anencephaly, induced pluripotent stem cells, Cytology, QH573-671
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Yukako Kayashima, W. H. Davin Townley-Tilson, Neeta L. Vora, Kim Boggess, Jonathon W. Homeister, Nobuyo Maeda-Smithies, Feng Li
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 3, p 2149 (2023)
مصطلحات موضوعية: preeclampsia, maternal obesity, insulin, ID2, trophoblast differentiation, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5
المؤلفون: Asha N. Talati, Kelly L. Gilmore, Emily E. Hardisty, Anne D. Lyerly, Christine Rini, Neeta L. Vora
المصدر: Prenat Diagn
مصطلحات موضوعية: Obstetrics and Gynecology, Article, Genetics (clinical)
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6
المؤلفون: Naomi O. Riches, Erin P. Johnson, Akila Subramaniam, Neeta L. Vora, Emily Hardisty, Kate LaRiviere, Erin Rothwell
المصدر: Prenatal Diagnosis. 43:605-612
مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)
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7
المؤلفون: Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen
المساهمون: Leiden University Medical Center (LUMC), Universiteit Leiden, Erasmus University Medical Center [Rotterdam] (Erasmus MC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Rouen, Normandie Université (NU), Columbia University Medical Center (CUMC), Columbia University [New York], Baylor College of Medicine (BCM), Baylor University, This work was supported, in part, by grants from the National Institutes of Health (Grant No. R01 MH101221 [to E.E.E.]). E.E.E. is an investigator of the Howard Hughes Medical Institute.Sequencing and analysis for individual 30 was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute (Grant Nos. UM1 HG008900 and R01 HG009141).Sequencing and analysis of cases 5 and 18 was funded by the National Institute of Child Human Development (Grant Nos. K23 HD088742 and R01 HD105868 [to N.L.V.])., Emergency Medicine, Clinical Genetics, van der Sluijs, Pleuntje J, Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Arts, Peer, Byrne, Alicia, Scott, Hamish S, Santen, Gijs WE
المصدر: van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INCمصطلحات موضوعية: prenatal, genetic association, Chromosomal Proteins, Non-Histone, Micrognathism, SMARCB1, genetic vulnerability, Article, Fetal, SMARCA4, Intellectual Disability, Humans, Coffin-Siris syndrome, Abnormalities, Multiple, Genetic Association Studies, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], BAF-complex, SMARCB, ARID1A, ARID1B BAFopathy, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Face, abnormalities, Hand Deformities, Congenital, Neck
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302232c268a34e8154eb121a3a262acc
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxK -
8
المؤلفون: Tidball, Taylor N. Takla, Jinghui Luo, Roksolana Sudyk, Joy Huang, John Clayton Walker, Neeta L. Vora, Jonathan Z. Sexton, Jack M. Parent, Andrew M.
المصدر: Cells; Volume 12; Issue 13; Pages: 1697
مصطلحات موضوعية: neuroteratogen, anencephaly, induced pluripotent stem cells
وصف الملف: application/pdf
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9
المؤلفون: Lisa Hui, Katie Ellis, Dora Mayen, Mark D. Pertile, Rebecca Reimers, Luming Sun, Joris Vermeesch, Neeta L. Vora, Lyn S. Chitty
المصدر: Prenatal Diagnosis.
مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)
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10
المؤلفون: Matthew R. Grace, Neeta L. Vora, Lisa Smeester, Sarah K. Dotters-Katz, Rebecca C. Fry, Victoria Bae-Jump, Kim Boggess
المصدر: American Journal of Perinatology.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8ef8562ec4ffb028600bd436a8dc87c
https://doi.org/10.1055/a-2008-8286