Results 231 to 240 of about 2,921,111 (382)

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young   +9 more
wiley   +1 more source

Corrigendum to "Early childcare arrangements and children's internalizing and externalizing symptoms: an individual participant data meta-analysis of six prospective birth cohorts in Europe" [The Lancet Regional Health - Europe, Volume 45, October 2024, 101036]. [PDF]

open access: yesLancet Reg Health Eur
Barry KM   +16 more
europepmc   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai   +4 more
wiley   +1 more source

What can we learn from an intersectionality-informed description of study participants? Results from the German National Cohort. [PDF]

open access: yesInt J Equity Health
Jaehn P   +38 more
europepmc   +1 more source

Worldwide Epidemiology of Atrial Fibrillation: A Global Burden of Disease 2010 Study

open access: yesCirculation, 2014
S. Chugh   +14 more
semanticscholar   +1 more source

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