Results 31 to 40 of about 306,932 (310)
Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants. [PDF]
, 2019 De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of ...
Brown, C Titus +2 more
core +1 more source
Inherited iron overload disorders [PDF]
Translational Gastroenterology and Hepatology, 2020 Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron uptake, management and export, iron transport and storage.
Piperno, Alberto +2 more
openaire +3 more sources
Enzymatic insights into an inherited genetic disorder
eLife, 2017 Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Liping Zhang, Kelly G Ten Hagen
doaj +1 more source
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]
, 2019 Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G. +7 more
core +1 more source
HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?
Journal of the Dow University of Health Sciences, 2008 Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz
doaj +4 more sources
Diagnosis of Brugada Syndrome, a Rare Inherited Arrhythmogenic Disorder
Dubai Medical Journal, 2020 Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death.
Juwairiya Syed Iqbaluddin +2 more
doaj +1 more source
Longevity and mortality of cats attending primary care veterinary practices in England [PDF]
, 2014 Enhanced knowledge on longevity and mortality in cats should support improved breeding, husbandry, clinical care and disease prevention strategies. The VetCompass research database of primary care veterinary practice data offers an extensive resource of ...
Bessant C +11 more
core +3 more sources
Inherited Reticulate Pigmentary Disorders
Genes, 2023 Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD ...
Min-Huei Lin +5 more
openaire +2 more sources
Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh
Orphanet Journal of Rare Diseases, 2023 Background Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh.
Amanda S. Wendt +5 more
doaj +1 more source
International Journal of Neonatal Screening, 2021 Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]
Stephan Lobitz +7 more
doaj +1 more source