Von Hippel–Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype–phenotype correlation based on alterations in VHL ...
International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the ...
Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single-nucleotide polymorphism analyses raised trait heritability estimates by 14 ...
BIRMINGHAM, Ala. - International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype ...
A Yale research team has created a new imaging technique that reveals the hidden connections between aging, disease, and ...
In this interview conducted at Pittcon 2023 in Philadelphia, Pennsylvania, we spoke to this year’s recipient of the Pittsburgh Analytical Chemistry Award, Neil Kelleher. My name is Neil Kelleher, and ...
Materials and Methods: APC mutations were identified in 953 FAP patients from 187 families. We used unconditional logistic regression models and a method involving generalized estimating equations to ...
Irvine, CA - June 1, 2021 - A new study analyzing the association between an individual's genetics (genotype) and their observable characteristics resulting from the interaction of genetics and the ...
The ability to discriminate between deleterious and neutral amino acid substitutions in the genes of patients remains a significant challenge in human genetics. The increasing availability of genomic ...
HealthDay on MSN
Exome Sequencing Can ID Those Who Are Genotype-Positive for Familial Hypercholesterolemia
Exome sequencing can identify individuals who are genotype-positive for familial hypercholesterolemia (FH), according to a ...
Materials and Methods: APC mutations were identified in 953 FAP patients from 187 families. We used unconditional logistic regression models and a method involving generalized estimating equations to ...
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