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The Journal of Biological Chemistry|July 17, 2021
PTEN regulates adipose progenitor cell growth, differentiation, and replicative agingAnna S Kirstein, Stephanie Kehr, Michèle Nebe, et al.
Blood|February 7, 2004
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisTaco W Kuijpers, Nikolai A Maianski, Anton T J Tool, et al.
Journal of the Neurological Sciences|December 1, 1983
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesP G Barth, H R Scholte, J A Berden, et al.
American Journal of Human Genetics|October 23, 1997
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathiesP D'Adamo, L Fassone, A Gedeon, et al.
Annals of Neurology|November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiencySacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Annals of Neurology|June 9, 1999
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex IR H Triepels, L P van den Heuvel, J L Loeffen, et al.
Neurology|June 15, 2007
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the familiesA J van der Kooi, W S Frankhuizen, P G Barth, et al.
Journal of Medical Genetics|May 17, 2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.
Journal of Neurology|September 19, 2000
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophyH B Ginjaar, A J van der Kooi, H Ceelie, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
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