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The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
The Journal of Clinical Investigation|April 2, 2013
SLITRK6 mutations cause myopia and deafness in humans and miceMustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalitiesJoseph S Leslie, Rim Hjeij, Asaf Vivante, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
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