Results 301 to 310 of about 3,861,183 (367)

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
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, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +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]

Front Genet
Xiao H, Xiao J, Zhang H, Huang S, Lu Q, Yuan H, Zou Y, Yang B, Liu Y.   +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]

Front Neurosci
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]

Int J Surg Case Rep
Alomar M, Shaker K, Alomar K.
europepmc   +1 more source

Aurea Mediocritas: mTOR Abides the Golden Mean. [PDF]

Epilepsy Curr
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]

Medicine (Baltimore)
Humeedat M, Jabareen M, Maraqa B, Sarahneh H, Manasra N.   +4 more
europepmc   +1 more source