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American Journal of Medical Genetics. Part A|September 24, 2017
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndromeMeghan Macdonald, Alexandra Hudson, Angela Bladon, et al.American Journal of Medical Genetics. Part A|September 24, 2017
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathyLohith Vatti, Sara M Fitzgerald-Butt, Kim L McBrideAmerican Journal of Medical Genetics. Part A|September 24, 2017
From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disordersHans D Ochs, Daniel PetroniAmerican Journal of Medical Genetics. Part A|September 27, 2017
Mutations in folate transporter genes and risk for human myelomeningoceleTina O Findley, Joy C Tenpenny, Michelle R O'Byrne, et al.American Journal of Medical Genetics. Part A|September 26, 2017
De novo mutations in HNRNPU result in a neurodevelopmental syndromeT Michael Yates, Pradeep C Vasudevan, Kate E Chandler, et al.American Journal of Medical Genetics. Part A|September 26, 2017
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturnedKit Sing Au, Tina O Findley, Hope NorthrupAmerican Journal of Medical Genetics. Part A|September 1, 2017
Factors related to home health-care transition in trisomy 13Yuma Kitase, Masahiro Hayakawa, Taiki Kondo, et al.American Journal of Medical Genetics. Part A|August 18, 2017
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literatureMarwa M Nabhan, Nour ElKhateeb, Daniela A Braun, et al.American Journal of Medical Genetics. Part A|August 18, 2017
The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apneaYasas S N Jayaratne, Ibrahim Elsharkawi, Eric A Macklin, et al.American Journal of Medical Genetics. Part A|August 18, 2017
Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalitiesBurhan Balta, Murat Erdogan, Ayse B Ergul, et al.Pageof 929