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American Journal of Human Genetics|October 1, 1991
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndromeA S Noer, H Sudoyo, P Lertrit, et al.
Molecular Cytogenetics|May 16, 2018
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short statureBagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, et al.
Molecular Cytogenetics|August 7, 2012
Chromosome abnormalities in Indonesian patients with short statureChrysantine Paramayuda, Hannie Kartapradja, Debby D Ambarwati, et al.
Human Molecular Genetics|November 1, 1994
Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunctionP Lertrit, R M Kapsa, M J Jean-Francois, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
A novel mtDNA deletion in an infant with Pearson syndromeR Kapsa, G N Thompson, D R Thorburn, et al.
Journal of Interferon Research|February 1, 1991
Universal antibodies to human interferon-alpha subtypes--the production of antipeptide antibodies to conserved regions of interferon-alphaN Sattayasai, G L McMullen, S Marzuki, et al.
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