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Human Molecular Genetics
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December 1, 1994
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation
M L Huie, A S Chen, S Tsujino, et al.
Neurology
|
October 1, 1991
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome
E Ciafaloni, E Ricci, S Servidei, et al.
American Journal of Medical Genetics
|
January 30, 1995
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome
A Inbal, N Avissar, M Shaklai, et al.
Progress in Clinical and Biological Research
|
January 1, 1989
Mitochondrial encephalomyopathies
S DiMauro, M Zeviani, C T Moraes, et al.
Neuromuscular Disorders : NMD
|
March 4, 1999
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease
C Bruno, L Tamburino, N Kawashima, et al.
Annals of Neurology
|
March 1, 1994
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)
S Tsujino, P Tonin, S Shanske, et al.
Research Publications - Association for Research in Nervous and Mental Disease
|
January 1, 1993
Mitochondrial dysfunction as a mechanism of CNS injury
S DiMauro, S Simonetti, X Chen, et al.
Prenatal Diagnosis
|
December 11, 1999
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
S L White, S Shanske, I Biros, et al.
Neurology
|
June 1, 1993
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
G Silvestri, E Ciafaloni, F M Santorelli, et al.
Human Mutation
|
January 1, 1994
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy
G Silvestri, F M Santorelli, S Shanske, et al.
Page
of 15
Search research articles
Search
Showing results (71-80 of 141) with videos related to
Sort By:
Page
of 15
Human Molecular Genetics
|
December 1, 1994
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation
M L Huie, A S Chen, S Tsujino, et al.
Neurology
|
October 1, 1991
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome
E Ciafaloni, E Ricci, S Servidei, et al.
American Journal of Medical Genetics
|
January 30, 1995
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome
A Inbal, N Avissar, M Shaklai, et al.
Progress in Clinical and Biological Research
|
January 1, 1989
Mitochondrial encephalomyopathies
S DiMauro, M Zeviani, C T Moraes, et al.
Neuromuscular Disorders : NMD
|
March 4, 1999
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease
C Bruno, L Tamburino, N Kawashima, et al.
Annals of Neurology
|
March 1, 1994
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)
S Tsujino, P Tonin, S Shanske, et al.
Research Publications - Association for Research in Nervous and Mental Disease
|
January 1, 1993
Mitochondrial dysfunction as a mechanism of CNS injury
S DiMauro, S Simonetti, X Chen, et al.
Prenatal Diagnosis
|
December 11, 1999
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
S L White, S Shanske, I Biros, et al.
Neurology
|
June 1, 1993
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
G Silvestri, E Ciafaloni, F M Santorelli, et al.
Human Mutation
|
January 1, 1994
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy
G Silvestri, F M Santorelli, S Shanske, et al.
Page
of 15