Results 201 to 210 of about 801,183 (312)

Where is the boundary of the human pseudoautosomal region? [PDF]

open access: yesAm J Hum Genet
Bellott DW   +4 more
europepmc   +1 more source

JACMP 2020–2024

open access: yes
Journal of Applied Clinical Medical Physics, EarlyView.
Susan L. Richardson
wiley   +1 more source

Biological profile of breast cancer brain metastasis. [PDF]

open access: yesActa Neuropathol Commun
Liu L   +10 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

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez   +15 more
wiley   +1 more source

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