Categoría: Articulos
-
Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project
European Journal of Human Genetics, Published online: 28 September 2026; doi:10.1038/s41431-026-02234-3Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project
-
Economic burden and associated factors among children with transfusion-dependent β-thalassemia in Guangxi, China: a cross-sectional multicenter study
Background Methods Results Conclusions …
-
Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy
BRSK1 is required for neural development, but its role in human disease is poorly understood. We report 10 individuals with seven BRSK1 variants who exhibit neurodevelopmental delay, sometimes accompanied by autism, epilepsy, and other phenotypes. Mode…
-
The complexity of multiple rare dental anomalies in a single mouth: microcephalic osteodysplastic primordial dwarfism type II
Background Results Conclusion Trial registra…
-
Economic burden and associated factors among children with transfusion-dependent β-thalassemia in Guangxi, China: a cross-sectional multicenter study
Background Methods Results Conclusions …
-
AI and fruit fly tests link BRSK1 gene to rare neurodevelopmental disorder
Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, the Texome Project and collaborating institutions have identified variants in the BRSK1 gene as a likely diagnosis for indi…
-
AI and fruit fly tests link BRSK1 gene to rare neurodevelopmental disorder
Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, the Texome Project and collaborating institutions have identified variants in the BRSK1 gene as a likely diagnosis for indi…
-
How missing pieces of the Y chromosome drive cancer in men
A new study found that cancer cells selectively chip away gene-rich sections of the Y chromosome, triggering changes that regulate tumor growth. Co-led by University of Arizona Cancer Center physician-scientist Dr. Dan Theodorescu, the paper, «Recurren…
-
How missing pieces of the Y chromosome drive cancer in men
A new study found that cancer cells selectively chip away gene-rich sections of the Y chromosome, triggering changes that regulate tumor growth. Co-led by University of Arizona Cancer Center physician-scientist Dr. Dan Theodorescu, the paper, «Recurren…
-
The complexity of multiple rare dental anomalies in a single mouth: microcephalic osteodysplastic primordial dwarfism type II
Background Results Conclusion Trial registra…