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S Shanske

Showing results (31-40 of 141) with videos related to

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Molecular Genetics and Metabolism|May 18, 1999
Polymorphic variants in the human mitochondrial cytochrome b geneA L Andreu, C Bruno, G M Hadjigeorgiou, et al.
Annals of Neurology|December 1, 1993
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeF M Santorelli, S Shanske, A Macaya, et al.
American Journal of Human Genetics|December 1, 1992
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)G Silvestri, C T Moraes, S Shanske, et al.
Annals of Neurology|October 1, 1994
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patientsS Tsujino, S Shanske, A K Brownell, et al.
American Journal of Human Genetics|May 1, 1994
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiencyS Tsujino, S Servidei, P Tonin, et al.
Neuromuscular Disorders : NMD|July 1, 1995
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both lociS Tsujino, S Shanske, J E Carroll, et al.
Journal of Child Neurology|September 17, 1999
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regressionA Shtilbans, M El-Schahawi, E Malkin, et al.
Neurologic Clinics|August 1, 1990
Mitochondrial encephalomyopathiesS DiMauro, E Bonilla, A Lombes, et al.
Kidney International|May 1, 1994
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathyM J Szabolcs, R Seigle, S Shanske, et al.
Neuromuscular Disorders : NMD|May 1, 1993
MELAS point mutation with unusual clinical presentationA L Shanske, S Shanske, G Silvestri, et al.
Pageof 15

Showing results (31-40 of 141) with videos related to

Sort By:
Pageof 15
Molecular Genetics and Metabolism|May 18, 1999
Polymorphic variants in the human mitochondrial cytochrome b geneA L Andreu, C Bruno, G M Hadjigeorgiou, et al.
Annals of Neurology|December 1, 1993
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeF M Santorelli, S Shanske, A Macaya, et al.
American Journal of Human Genetics|December 1, 1992
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)G Silvestri, C T Moraes, S Shanske, et al.
Annals of Neurology|October 1, 1994
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patientsS Tsujino, S Shanske, A K Brownell, et al.
American Journal of Human Genetics|May 1, 1994
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiencyS Tsujino, S Servidei, P Tonin, et al.
Neuromuscular Disorders : NMD|July 1, 1995
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both lociS Tsujino, S Shanske, J E Carroll, et al.
Journal of Child Neurology|September 17, 1999
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regressionA Shtilbans, M El-Schahawi, E Malkin, et al.
Neurologic Clinics|August 1, 1990
Mitochondrial encephalomyopathiesS DiMauro, E Bonilla, A Lombes, et al.
Kidney International|May 1, 1994
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathyM J Szabolcs, R Seigle, S Shanske, et al.
Neuromuscular Disorders : NMD|May 1, 1993
MELAS point mutation with unusual clinical presentationA L Shanske, S Shanske, G Silvestri, et al.
Pageof 15