Results 21 to 30 of about 78,400 (304)
Testing heterozygote excess and deficiency
, 1995 Currently used tests of Hardy-Weinberg proportions do not take into account the nature of the alternative hypothesis, which is generally a heterozygote deficiency.
Raymond, Michel, Rousset, François
core +2 more sources
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Genetic behavior of induced translocation heterozygote in Artemisia annua L.
Electronic Journal of Plant Breeding, 2020 From the population raised from gamma irradiated seeds at different doses (100, 200 and 300 Gy), at 100 Gy phenotypically dissimilar plant (from the control plants) was isolated.
Girjesh Kumar and Rajani Singh
doaj +1 more source
Detection of Phenylketonuric Heterozygotes
Clinical Chemistry, 1971 Abstract Estimation of plasma phenylalanine and tyrosine by an abridged (30 min) column chromatography procedure was assessed. Plasma phenylalanine and tyrosine concentrations, determined in 112 phenylketonuric obligate heterozygotes and in 88 normal controls, did not differ significantly from other reported series in which the data were
S H, Jackson +3 more
openaire +2 more sources
Round Window Response measurements from Klhl18+/lowf (heterozygote) mice.
, 2021 Compound Action Potential latency (of wave N) and amplitude (N-P amplitude) are plotted in A-E and F-J, respectively, for potentials measured in response to tones of 6, 12, 18, 24 and 30 kHz.
Clarisse Panganiban (503633) +6 more
core +1 more source
Scientific Reports, 2022 The present study was carried out, for the first time, to evaluate the association of rs2268458 polymorphism, biochemical and environmental factors on hypothyroid and hyperthyroid disorders in thyroid patients and healthy individuals in Yazd province ...
Fahime Sadat Naghibi +2 more
doaj +1 more source
EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis
Frontiers in Genetics, 2023 Background: Chronic obstructive pulmonary disease (COPD) affects approximately 400 million people worldwide and is associated with high mortality and morbidity.
Qinjun Yang +12 more
doaj +1 more source
Journal of Pure and Applied Microbiology, 2018 Growth differentiation factor 9 (GDF9) is play a critical role in ovarian follicular development and ovulation rate. The present research was performed to investigate the correlation between single nucleotide polymorphism (SNP) of GDF9 gene and ...
H. Al-Mutar, L. Younis, H. Khawla
doaj +1 more source
High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. [PDF]
PLoS ONE, 2014 β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China.
Min Lin +19 more
doaj +1 more source
Heterozygote microRNAs regulating body fat.
, 2019 Heterozygote microRNAs regulating body fat.
Shuyin Zhang (6997076) +9 more
core +1 more source