Disclosing to parents newborn carrier status identified by routine blood spot screening [PDF]
Dezateux, Carol +4 more
core +1 more source
We documented genetic variation, population structure, and bottleneck signals in Geoffroea decorticans (Fabaceae) populations across the Atacama Desert and emphasize the urgency of genetic monitoring. Conservation plans should prioritize populations based on genetic information including those with low diversity, strong bottleneck signals and high ...
Roberto Contreras +2 more
wiley +1 more source
Risk factors for venous thromboembolism in Slovenian children and adolescents: a single center experience. [PDF]
Leban M +4 more
europepmc +1 more source
Evolution of Resistance to Avian Malaria Infection in an Endemic Hawaiian Honeycreeper
Hawaiian honeycreepers, a group of endemic song birds, represent one of the most stunning examples of an adaptive radiation. An evolutionary history devoid of malaria‐causing parasites has made them incredibly susceptible to disease. This work sought to identify genomic correlates of avian malaria infection.
John H. Neddermeyer +5 more
wiley +1 more source
Alpha-Globin Gene Triplication in Central Thailand: Prevalence, Haematological Findings and Clinical Impact With Co-Inherited Beta-Globin Mutations. [PDF]
Dujjawan B +3 more
europepmc +1 more source
ABSTRACT Background In women, breast cancer (BC) occurs more often than any other cancer worldwide and in Bangladesh. Genetic susceptibility, including functional polymorphisms affecting microRNA binding, may contribute to BC risk. This study aims to investigate the association between KRAS 3' UTR gene polymorphisms (rs712 and rs61764370) and BC risk ...
Taslia Afrose Eva +7 more
wiley +1 more source
Hb Thessaloniki, a Novel, Hyperunstable, Alpha Globin Variant Detected in Northern Greece. [PDF]
Boutou E +8 more
europepmc +1 more source
The Impact of Surfactant Protein‐D Gene Polymorphism on COVID‐19 Clinical Outcomes
ABSTRACT Background COVID‐19, caused by the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), presents a broad spectrum of clinical manifestations, ranging from asymptomatic cases to severe, life‐threatening respiratory complications. Pulmonary surfactant‐associated protein D (SP‐D) is a critical component of pulmonary immune defense.
Nadia Nasirzadeh Kolsari +5 more
wiley +1 more source
Evaluation of false positive and false negative errors in targeted next generation sequencing. [PDF]
Moon Y +10 more
europepmc +1 more source
Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype. [PDF]
Feng X +6 more
europepmc +1 more source

