Results 161 to 170 of about 1,551,359 (398)

A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes.

open access: yesProceedings of the National Academy of Sciences of the United States of America, 1988
R. Moyzis   +8 more
semanticscholar   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun   +95 more
wiley   +1 more source

Chromosomes and sexual development of rodent malaria parasites

open access: yesMemorias do Instituto Oswaldo Cruz, 1994
C. J. Janse   +3 more
doaj   +1 more source

Structural variation of chromosomes in autism spectrum disorder.

open access: yesAmerican Journal of Human Genetics, 2008
C. Marshall   +34 more
semanticscholar   +1 more source

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno   +13 more
wiley   +1 more source

Genetic and epigenetic mechanisms of regulation, chronology and dynamics of spermatogenesis of mammals

open access: yesАндрология и генитальная хирургия, 2015
Genetic and epigenetic mechanisms of spermatogenesis – long process with many stages regulation are discussed. DNA code is the entirety of hereditary information, epigenetic mechanisms of gene regulation act without altering primary nucleotide sequences.
L. F. Kurilo, M. I. Shtaut
doaj  

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou   +12 more
wiley   +1 more source

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