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Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Human Molecular Genetics|April 10, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisAlistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, et al.
Journal of the American Society of Nephrology : JASN|January 25, 2020
Kidney Structural Features from Living Donors Predict Graft Failure in the RecipientNaim Issa, Camden L Lopez, Aleksandar Denic, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 13, 2026
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, et al.
European Journal of Human Genetics : EJHG|May 21, 2025
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsyErina Sasaki, Philip Millington, Taisiia Sazonova, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Human Molecular Genetics|May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome functionZhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
Kidney International Reports|May 2, 2022
Kidney Transplant Outcomes of Patients With Multiple MyelomaCihan Heybeli, Andrew J Bentall, Mariam Priya Alexander, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 26, 2020
Immunoglobulin-Negative DNAJB9-Associated Fibrillary Glomerulonephritis: A Report of 9 CasesSamar M Said, Alejandro Best Rocha, Virginie Royal, et al.
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