Results 301 to 310 of about 3,861,183 (367)
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji+10 more
wiley +1 more source
A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications. [PDF]
Xiao H+8 more
europepmc +1 more source
Case Report: Prenatal diagnosis of 10 fetuses with 15q11-q13 duplication and pregnancy outcome in a cohort of Chinese women. [PDF]
Wu K, Li X, Zhou H, Cong Y.
europepmc +1 more source
Clinical and genetic features of 6q deletion syndrome: A literature review and case report. [PDF]
Alomar M, Shaker K, Alomar K.
europepmc +1 more source
Aurea Mediocritas: mTOR Abides the Golden Mean. [PDF]
Riley VA, Danzer SC.
europepmc +1 more source
Expanding the phenotypic spectrum of Beaulieu-Boycott-Innes syndrome: A case report of a novel THOC6 gene mutation associated with ambiguous genitalia and disorders of sexual development. [PDF]
Humeedat M+4 more
europepmc +1 more source