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D Toniolo

Showing results (41-50 of 93) with videos related to

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European Journal of Neurology|July 27, 2004
The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implantM Vytopil, S Vohanka, J Vlasinova, et al.
Human Reproduction (Oxford, England)|December 20, 2005
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestationB Bodega, S Bione, L Dalprà, et al.
Cytogenetics and Cell Genetics|January 1, 1985
Localization of glucose-6-phosphate dehydrogenase in mouse and man by in situ hybridization: evidence for a single locus and transposition of homologous X-linked genesP A Martin-DeLeon, S F Wolf, G Persico, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1993
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28S Bione, F Tamanini, E Maestrini, et al.
Human Molecular Genetics|July 1, 1994
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiaeC Tribioli, M Mancini, E Plassart, et al.
Nucleic Acids Research|December 21, 1984
Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensationS F Wolf, S Dintzis, D Toniolo, et al.
American Journal of Medical Genetics|October 26, 2000
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian familyS Russo, F Cogliati, F Cavalleri, et al.
Human Genetics|February 1, 1994
G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotypeM D Cappellini, M Sampietro, D Toniolo, et al.
Clinical Genetics|October 23, 1997
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studiesS Claes, K Devriendt, P D'Adamo, et al.
Neuromuscular Disorders : NMD|May 23, 2001
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathyS Vohanka, M Vytopil, J Bednarik, et al.
Pageof 10

Showing results (41-50 of 93) with videos related to

Sort By:
Pageof 10
European Journal of Neurology|July 27, 2004
The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implantM Vytopil, S Vohanka, J Vlasinova, et al.
Human Reproduction (Oxford, England)|December 20, 2005
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestationB Bodega, S Bione, L Dalprà, et al.
Cytogenetics and Cell Genetics|January 1, 1985
Localization of glucose-6-phosphate dehydrogenase in mouse and man by in situ hybridization: evidence for a single locus and transposition of homologous X-linked genesP A Martin-DeLeon, S F Wolf, G Persico, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1993
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28S Bione, F Tamanini, E Maestrini, et al.
Human Molecular Genetics|July 1, 1994
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiaeC Tribioli, M Mancini, E Plassart, et al.
Nucleic Acids Research|December 21, 1984
Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensationS F Wolf, S Dintzis, D Toniolo, et al.
American Journal of Medical Genetics|October 26, 2000
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian familyS Russo, F Cogliati, F Cavalleri, et al.
Human Genetics|February 1, 1994
G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotypeM D Cappellini, M Sampietro, D Toniolo, et al.
Clinical Genetics|October 23, 1997
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studiesS Claes, K Devriendt, P D'Adamo, et al.
Neuromuscular Disorders : NMD|May 23, 2001
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathyS Vohanka, M Vytopil, J Bednarik, et al.
Pageof 10