Results 141 to 150 of about 2,752 (180)

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing. [PDF]

open access: yesHemasphere
Marti S   +32 more
europepmc   +1 more source

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome. [PDF]

open access: yesHum Mol Genet
Sniezek Carney O   +8 more
europepmc   +1 more source

Omega-3 fatty acid supplementation improves skeletal muscle mitochondrial function in a model of Barth syndrome. [PDF]

open access: yesJCI Insight
Kuentzel KB   +18 more
europepmc   +1 more source

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