Genetic Study Reveals Predictable Vision Loss in CERKL-Related Retinal Dystrophy
The Brazilian cohort adds a meaningful dimension to the global picture of CERKL-related disease because most published genotype-phenotype series have ...
Tag: genetic counseling
Adolescence Emerges as Decisive Window for Fertility Care in Congenital Adrenal Hyperplasia
A new review maps how congenital adrenal hyperplasia disrupts fertility and psychosexual development in adolescents and argues that early, multidisciplinary ...
Fetal Gene Test Uncovers BICD2 Mutation Behind Congenital Knee Dislocation
A Chinese case report documents the prenatal ultrasound detection of congenital knee dislocation and traces it to a de novo ...
Prenatal detectives: a 10.42 Mb homozygous chromosome 6 segment with a normal baby
A new case report describes how chromosomal microarray and trio whole-exome sequencing revealed a 10.42 Mb homozygous segment on chromosome ...
Simple DNA Biosensor Delivers Rapid Screening for Southeast Asian α-Thalassemia Deletion
Thai researchers have developed a one-step LAMP and lateral flow dipstick biosensor that detects the Southeast Asian α-thalassemia 1 deletion ...
Pregnancy Is Now Within Reach for Women With Severe Beta-Thalassemia, Landmark Review Finds
A new narrative review in the Annals of Hematology distills forty evidence-based recommendations showing that women with transfusion-dependent beta-thalassemia can ...
Cancer Survivors Lead the Way in Genetic Testing, but Rural Gaps Persist, National Survey Finds
A nationally representative study of more than 27,000 U.S. adults finds that a personal cancer history strongly increases engagement with ...
Personalized Navigation Boosts Hereditary Cancer Genetic Testing Among Relatives
A randomized trial at MD Anderson Cancer Center found that personalized navigation support raised BRCA genetic testing uptake among at-risk ...
Massive Parkinson’s Genetics Study Confirms Rare Gene Variants Raise Disease Risk
New data from the 8,660-participant ROPAD cohort corroborate that ITSN1 loss-of-function variants raise Parkinson's disease risk five- to fifteen-fold, while ...
Colombian Study Tracks Ten-Year Survival in Breast Cancer Patients Carrying Inherited Risk Variants
A retrospective cohort of 259 Colombian breast cancer patients with germline pathogenic variants found a ten-year overall survival of 75 ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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