Showing results (421-430 of 645) with videos related to

Sort By:
Pageof 65
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
American Journal of Human Genetics|March 5, 2016
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyTamar Harel, Gozde Yesil, Yavuz Bayram, et al.
Neurology. Genetics|August 18, 2020
Integrated sequencing and array comparative genomic hybridization in familial Parkinson diseaseLaurie A Robak, Renqian Du, Bo Yuan, et al.
HGG Advances|March 5, 2021
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulationAdam W Hansen, Payal Arora, Michael M Khayat, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 6, 2012
Epistasis dominates the genetic architecture of Drosophila quantitative traitsWen Huang, Stephen Richards, Mary Anna Carbone, et al.
JAMA Neurology|November 24, 2015
Whole-Exome Sequencing in Familial Parkinson DiseaseJanice L Farlow, Laurie A Robak, Kurt Hetrick, et al.
Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.
BMC Medical Genomics|July 21, 2016
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rateWu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, et al.
American Journal of Human Genetics|September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in HumansFrancesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.
Neuron|December 27, 2016
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and NeurodegenerationWan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, et al.
Pageof 65