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American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Journal of Genetic Counseling|September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingChloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
Journal of the American College of Cardiology|March 7, 2023
3-Year Outcomes After Transcatheter or Surgical Aortic Valve Replacement in Low-Risk Patients With Aortic StenosisJohn K Forrest, G Michael Deeb, Steven J Yakubov, et al.
The American Journal of Cardiology|January 22, 2025
Comparative Outcomes of Left Main and Nonleft Main Percutaneous Coronary Intervention from the Excellence in Coronary Artery Disease (XLCAD) RegistryRobert C Stoler, Minseob Jeong, Talha Akram, et al.
Journal of Medical Genetics|September 23, 2008
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disordersD T Miller, Y Shen, L A Weiss, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
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