Results 111 to 120 of about 81,851 (305)
, 2007 International audienceBackground: Pseudoxanthoma elasticum (PXE) is related to mutations in the ABCC6 gene and characterized pathologically by dystrophic and mineralized elastic fibres.
Le Bert, Marc +5 more
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MUTATIONAL HETEROZYGOTES IN BACTERIOPHAGES [PDF]
Proceedings of the National Academy of Sciences, 1959 D, Pratt, G S, Stent
openaire +2 more sources
The importance of gene polymorphism in familial inheritance of endometriosis
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik +4 more
wiley +1 more source
Detail view of homozygote vs. heterozygote RAM response times.
, 2013 Panels A and B show the RAM response times (Rt) for Wt and heterozygote DNA samples hybridized to the Wt-detecting C-probe. Panels C and D show the RAM response times for Ht and Mt DNA samples hybridized to the Mt-detecting C-probe, respectively.
Thomas P. Beals (415547) +1 more
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Citation: 'heterozygote' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.15775 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire +1 more source
Effect of Notch1 on Vocal Fold Re‐Epithelization After Acute Injury
The Laryngoscope, EarlyView.Conditional deletion of Notch1 in Lrig1‐expressing vocal fold epithelial cells impaired re‐epithelialization following naphthalene injury, resulting in sustained basal cell proliferation, abnormal epithelial differentiation, and prolonged inflammatory cell infiltration.
Jie Cai +2 more
wiley +1 more source
Genotyping analysis of offspring and embryos derived from Med28 heterozygote intercrosses.
, 2015 aEmpty deciduas or not enough DNA to genotypeGenotyping analysis of offspring and embryos derived from Med28 heterozygote intercrosses.
Ryan M. Walsh (804303) +8 more
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Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam +4 more
wiley +1 more source
A compound heterozygote case of isolated sulfite oxidase deficiency
, 2017 We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood ...
Brumaru, Daniel +9 more
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The Effect of LRRK2 and GBA1 Mutations on Survival in Early‐ and Late‐Onset Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Mutations in the glucocerebrosidase 1 (GBA1) and leucine‐rich repeat kinase 2 (LRRK2) genes are associated with Parkinson's disease (PD) phenotype. Objective To asses the contribution of genetic status to long‐term survival of patients with PD.
Raz Rubin +6 more
wiley +1 more source