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Clinical Genetics
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January 1, 1995
Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy
V Guzzetta, L Santoro, P Gasparo-Rippa, et al.
Human Genetics
|
March 1, 1986
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
A Ballabio, G Parenti, P Tippett, et al.
Human Genetics
|
December 1, 1987
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
A Ballabio, G Sebastio, R Carrozzo, et al.
American Journal of Human Genetics
|
June 1, 1995
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations
G Sebastio, M P Sperandeo, M Panico, et al.
European Journal of Pediatrics
|
July 1, 1987
Evidence of polyglandular involvement in Niemann-Pick disease type B
P Strisciuglio, S Di Maio, G Parenti, et al.
Clinical Genetics
|
July 3, 1998
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs
G Parenti, M Filocamo, L Titomanlio, et al.
Clinical Genetics
|
February 27, 2004
Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene
L Titomanlio, D De Brasi, A Buoninconti, et al.
Human Genetics
|
January 19, 1979
A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies
A J Reuser, G Andria, E de Wit-Verbeek, et al.
American Journal of Medical Genetics. Part A
|
July 3, 2003
Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: a new syndrome?
M Salerno, G Amabile, C Mandato, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency
G Parenti, A Ballabio, A T Hoogeveen, et al.
Page
of 14
Search research articles
Search
Showing results (61-70 of 137) with videos related to
Sort By:
Page
of 14
Clinical Genetics
|
January 1, 1995
Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy
V Guzzetta, L Santoro, P Gasparo-Rippa, et al.
Human Genetics
|
March 1, 1986
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
A Ballabio, G Parenti, P Tippett, et al.
Human Genetics
|
December 1, 1987
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
A Ballabio, G Sebastio, R Carrozzo, et al.
American Journal of Human Genetics
|
June 1, 1995
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations
G Sebastio, M P Sperandeo, M Panico, et al.
European Journal of Pediatrics
|
July 1, 1987
Evidence of polyglandular involvement in Niemann-Pick disease type B
P Strisciuglio, S Di Maio, G Parenti, et al.
Clinical Genetics
|
July 3, 1998
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs
G Parenti, M Filocamo, L Titomanlio, et al.
Clinical Genetics
|
February 27, 2004
Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene
L Titomanlio, D De Brasi, A Buoninconti, et al.
Human Genetics
|
January 19, 1979
A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies
A J Reuser, G Andria, E de Wit-Verbeek, et al.
American Journal of Medical Genetics. Part A
|
July 3, 2003
Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: a new syndrome?
M Salerno, G Amabile, C Mandato, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency
G Parenti, A Ballabio, A T Hoogeveen, et al.
Page
of 14