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Human Genetics|February 20, 2019
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasisAli Amar, Amar J Majmundar, Ihsan Ullah, et al.Human Genetics|March 9, 2019
A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhoundsSarah C Murphy, Alfredo Recio, Cristian de la Fuente, et al.Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.Human Genetics|August 19, 2019
Looking to the future of zebrafish as a model to understand the genetic basis of eye diseaseFlorencia Cavodeassi, Stephen W WilsonHuman Genetics|October 6, 2019
Characterization of GJB2 cis-regulatory elements in the DFNB1 locusStéphanie Moisan, Anaïs Le Nabec, Alicia Quillévéré, et al.Human Genetics|January 1, 1979
PiT: a new allele in the alpha 1-antitrypsin systemP Kühnl, W SpielmannHuman Genetics|March 1, 1988
Prenatal diagnosis of cystic fibrosis by microvillar enzyme assay on a sequence of 258 pregnanciesD J Brock, H A Clarke, L BarronHuman Genetics|March 1, 1988
Germinal mosaicism in Duchenne muscular dystrophyS Wood, B C McGillivrayHuman Genetics|January 6, 2022
Interpretable generative deep learning: an illustration with single cell gene expression dataMartin Treppner, Harald Binder, Moritz HessHuman Genetics|January 13, 2022
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteumYu Zheng, Guanghui Zhu, Yaoxi Liu, et al.Pageof 959