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Showing results (101-110 of 137) with videos related to

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Genomics|May 23, 1998
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndromeM P Sperandeo, G Borsani, B Incerti, et al.
Journal of Medical Genetics|April 1, 1991
Aldolase B mutations in Italian families affected by hereditary fructose intoleranceG Sebastio, R de Franchis, P Strisciuglio, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1989
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosomeA Ballabio, B Bardoni, R Carrozzo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 27, 2011
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatmentM Rosa, A Pascarella, G Parenti, et al.
Journal of Inherited Metabolic Disease|April 26, 2008
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?D Melis, F Balivo, R Della Casa, et al.
Neuropediatrics|October 1, 1984
Unexplained bilateral occipital calcification and reduced visionE Del Giudice, L Pelosi, A Romano, et al.
American Journal of Respiratory and Critical Care Medicine|March 28, 1998
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?F Santamaria, G Parenti, G Guidi, et al.
Acta Paediatrica (Oslo, Norway : 1992)|February 20, 2004
Down syndrome and breastfeedingA Pisacane, E Toscano, I Pirri, et al.
Neuromuscular Disorders : NMD|August 22, 2018
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case reportS Fecarotta, V Gragnaniello, R Della Casa, et al.
Journal of Medical Genetics|December 24, 1998
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in ItalyR de Franchis, A Buoninconti, C Mandato, et al.
Pageof 14

Showing results (101-110 of 137) with videos related to

Sort By:
Pageof 14
Genomics|May 23, 1998
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndromeM P Sperandeo, G Borsani, B Incerti, et al.
Journal of Medical Genetics|April 1, 1991
Aldolase B mutations in Italian families affected by hereditary fructose intoleranceG Sebastio, R de Franchis, P Strisciuglio, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1989
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosomeA Ballabio, B Bardoni, R Carrozzo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 27, 2011
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatmentM Rosa, A Pascarella, G Parenti, et al.
Journal of Inherited Metabolic Disease|April 26, 2008
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?D Melis, F Balivo, R Della Casa, et al.
Neuropediatrics|October 1, 1984
Unexplained bilateral occipital calcification and reduced visionE Del Giudice, L Pelosi, A Romano, et al.
American Journal of Respiratory and Critical Care Medicine|March 28, 1998
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?F Santamaria, G Parenti, G Guidi, et al.
Acta Paediatrica (Oslo, Norway : 1992)|February 20, 2004
Down syndrome and breastfeedingA Pisacane, E Toscano, I Pirri, et al.
Neuromuscular Disorders : NMD|August 22, 2018
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case reportS Fecarotta, V Gragnaniello, R Della Casa, et al.
Journal of Medical Genetics|December 24, 1998
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in ItalyR de Franchis, A Buoninconti, C Mandato, et al.
Pageof 14