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American Journal of Medical Genetics. Part A|June 20, 2022
Functional significance of novel variants of the MEF2C gene promoter in congenital ventricular septal defectsZhi-Hua Zeng, Huan-Xin Chen, Xiao-Cheng Liu, et al.
American Journal of Medical Genetics. Part A|December 14, 2020
Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong KongPo L So, Ho M Luk, Kris P T Yu, et al.
American Journal of Medical Genetics. Part A|May 31, 2021
Pneumonia and respiratory infection in Down syndrome: A 10-year cohort analysis of inpatient and outpatient encounters across the lifespanJasmine M Blake, Daniela Estrada Gomez, Brian G Skotko, et al.
American Journal of Medical Genetics. Part A|May 31, 2021
Behavioral and cognitive functioning in individuals with Cantú syndromeHelen I Roessler, Lieke M van der Heuvel, Kathleen Shields, et al.
American Journal of Medical Genetics. Part A|June 2, 2021
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literatureLaura Gogoll, Katharina Steindl, Pascal Joset, et al.
American Journal of Medical Genetics. Part A|January 4, 2021
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literatureTomer Stern, Naama Orenstein, Avi Fellner, et al.
American Journal of Medical Genetics. Part A|January 12, 2021
41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meetingKaren W Gripp, Kenneth Lyons Jones, Tara L Wenger, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort studyBradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblingsMaud Blanluet, Sandra Chantot-Bastaraud, Pascal Chambon, et al.
American Journal of Medical Genetics. Part A|May 26, 2021
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10Chawan Manaspon, Ponghatai Boonsimma, Chureerat Phokaew, et al.
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