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Human Molecular Genetics|June 23, 2018
TNNT1 nemaline myopathy: natural history and therapeutic frontierMichael D Fox, Vincent J Carson, Han-Zhong Feng, et al.
Human Molecular Genetics|September 12, 2018
Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle lengthTriin Laisk, Viktorija Kukuškina, Duncan Palmer, et al.
Human Molecular Genetics|August 8, 2018
Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retinaJuthaporn Assawachananont, Soo-Young Kim, Koray D Kaya, et al.
Human Molecular Genetics|August 8, 2018
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosaLin Zhang, Zixi Sun, Peiquan Zhao, et al.
Human Molecular Genetics|August 8, 2018
Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyriaIrantzu Serrano-Mendioroz, Ana Sampedro, Naroa Serna, et al.
Human Molecular Genetics|October 11, 2017
Mdm2 mediates FMRP- and Gp1 mGluR-dependent protein translation and neural network activityDai-Chi Liu, Joseph Seimetz, Kwan Young Lee, et al.
Human Molecular Genetics|October 11, 2017
Differential protective effects of connective tissue growth factor against Aβ neurotoxicity on neurons and gliaCheng-Ning Yang, Min-Fang Wu, Chung-Chih Liu, et al.
Human Molecular Genetics|October 11, 2017
Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2James M Dell'Orco, Stefan M Pulst, Vikram G Shakkottai
Human Molecular Genetics|October 11, 2017
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunctionWalid Fazeli, Peter Herkenrath, Barbara Stiller, et al.
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