المؤلفون: Ashley A. Moeller MD, Marcia V. Felker MD, Jennifer A. Brault MD, MS, MS, Laura C. Duncan MS, CGC, Rizwan Hamid MD, PhD, Meredith R. Golomb MD, MSc

المصدر: Child Neurology Open, Vol 8 (2021)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1177/2329048X211036137Test; https://doaj.org/toc/2329-048XTest; https://doaj.org/article/b063db979a6b41cc962f3a4ace8eeaf7Test

الإتاحة: https://doi.org/10.1177/2329048X211036137Test
https://doaj.org/article/b063db979a6b41cc962f3a4ace8eeaf7Test

المؤلفون: Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau

المساهمون: Clinical Genetics, Neurosciences

المصدر: Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science

مصطلحات موضوعية: General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f08541291a7d8417d62644c4db9e51aTest
https://doi.org/10.1126/scitranslmed.abo3189Test

المؤلفون: Jenna L. Wallace, Amanda Tourjee, Elisa Seeger, Camila Elizondo, Jennifer A. Brault, Camille Corre, Kaprice C. Shullanberger, Jennifer A. Accardo, Jullie Rhee, Eric J. Mallack, Florian Eichler, Jennifer Rubin, April C. Jackson-Garcia, Stephanie Keller, Kevin C. Ess, Catherine Becker, Amy Waldman, Angela White, Melissa Trovato, Klaus Werner, Michael R. Wallace, Jennifer Garafola

المصدر: Journal of Child Neurology

مصطلحات موضوعية: cognition, leukodystrophy, medicine.medical_specialty, Best practice, Patient Advocacy, Disease, Severity of Illness Index, Patient advocacy, rehabilitation, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Disease severity, Multidisciplinary approach, 030225 pediatrics, medicine, Humans, genetics, sleep, Child, seizures, Topical Review Articles, business.industry, spasticity, Cognition, Guideline, medicine.disease, Hereditary Central Nervous System Demyelinating Diseases, pediatric, disability, Family medicine, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88677a9f9327420ecde18e55ab7ddb8Test
https://doi.org/10.1177/0883073820946154Test

المؤلفون: Laurence E. Walsh, David D. Weaver, Jennifer A. Brault, Gail H. Vance

المصدر: J Pediatr Genet

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, X-linked ichthyosis, business.industry, Status epilepticus, medicine.disease, Uniparental disomy, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Atrophy, Nondisjunction, Pediatrics, Perinatology and Child Health, medicine, Klinefelter syndrome, medicine.symptom, business, Developmental regression, Genetics (clinical), X chromosome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::187c20f55cc4d93d8924d5a18f154d56Test
https://doi.org/10.1055/s-0040-1715573Test

المؤلفون: Jennifer A. Brault, David D. Weaver, Jennifer L. Stinson, Bryan D. Hall, Boaz Karmazyn, Brett H. Graham, Paula Delk

المصدر: American Journal of Medical Genetics Part A. 182:1562-1571

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Microcephaly, Dwarfism, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Pregnancy, Intellectual Disability, Intellectual disability, Genetics, medicine, Macroglossia, Humans, Abnormalities, Multiple, Genetics (clinical), Exome sequencing, Bone Diseases, Developmental, Fetal Growth Retardation, business.industry, Infant, Newborn, Syndrome, medicine.disease, 030104 developmental biology, Dysplasia, Face, Etiology, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94e2ef2db6336973ebe7fafeac56199Test
https://doi.org/10.1002/ajmg.a.61619Test