Results 321 to 330 of about 1,946,862 (417)

Machine learning applications in genetics and genomics

open access: yesNature reviews genetics, 2015
Maxwell W. Libbrecht   +1 more
semanticscholar   +1 more source

Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]

open access: yesBMC Med Genomics
Kasmi Z   +9 more
europepmc   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang   +16 more
wiley   +1 more source

Characterization of cDNA and genomic sequences corresponding to an embryonic myosin heavy chain.

open access: hybrid, 1985
Muthu Periasamy   +4 more
openalex   +1 more source

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