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Showing results (81-90 of 137) with videos related to

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Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1996
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative GroupV Guzzetta, E De Fabiani, G Galli, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11M P Sperandeo, M Panico, A Pepe, et al.
Journal of Medical Genetics|December 24, 1998
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1D Melis, L Perone, M P Sperandeo, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutationsM P Sperandeo, M Candito, G Sebastio, et al.
Prenatal Diagnosis|August 19, 1999
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case reportM P Sperandeo, A Buoninconti, A Passariello, et al.
Journal of Medical Genetics|September 1, 1996
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B geneR Santamaria, S Tamasi, G Del Piano, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase geneV Guzzetta, G Bonapace, I Dianzani, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Genetic homogeneity of lysinuric protein intoleranceT Lauteala, J Mykkänen, M P Sperandeo, et al.
Human Heredity|October 6, 2001
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypesS Giannattasio, I Dianzani, P Lattanzio, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1987
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosisA Ballabio, G Parenti, R Carrozzo, et al.
Pageof 14

Showing results (81-90 of 137) with videos related to

Sort By:
Pageof 14
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1996
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative GroupV Guzzetta, E De Fabiani, G Galli, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11M P Sperandeo, M Panico, A Pepe, et al.
Journal of Medical Genetics|December 24, 1998
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1D Melis, L Perone, M P Sperandeo, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutationsM P Sperandeo, M Candito, G Sebastio, et al.
Prenatal Diagnosis|August 19, 1999
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case reportM P Sperandeo, A Buoninconti, A Passariello, et al.
Journal of Medical Genetics|September 1, 1996
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B geneR Santamaria, S Tamasi, G Del Piano, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase geneV Guzzetta, G Bonapace, I Dianzani, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Genetic homogeneity of lysinuric protein intoleranceT Lauteala, J Mykkänen, M P Sperandeo, et al.
Human Heredity|October 6, 2001
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypesS Giannattasio, I Dianzani, P Lattanzio, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1987
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosisA Ballabio, G Parenti, R Carrozzo, et al.
Pageof 14