Results 161 to 170 of about 2,497,717 (340)

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit   +16 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu   +6 more
wiley   +1 more source

Detection of genetic imbalances in tumor genomes by fluorescence in situ hybridization with tumor genomic DNA and subregional DNA probes [PDF]

open access: yes, 1993
Cremer, Thomas   +12 more
core   +1 more source

Chromosome banding pattern in human colonic polyps.

open access: yesHereditas, 2009
F. Mitelman   +5 more
semanticscholar   +1 more source

A novel carcinogenic mouse model by site‐directed insertion of tandem human HRAS large DNA fragment into 15E1 site

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The NF‐hHRAS mouse model was generated through Chr15 E1 locus‐targeted integration of a 21 kb multicopy HRAS gene cluster. The NF‐hHRAS model demostrated tissue‐specific expression of human HRAS across multiple organs and low spontaneous tumorigenesis.
Susu Liu   +12 more
wiley   +1 more source

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