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Showing results (121-130 of 137) with videos related to

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Journal of Inherited Metabolic Disease|April 8, 2006
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentationS Fecarotta, G Parenti, P Vajro, et al.
American Journal of Human Genetics|March 11, 2000
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromesM P Sperandeo, P Ungaro, M Vernucci, et al.
European Journal of Human Genetics : EJHG|December 22, 1999
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutationsD De Brasi, T Esposito, M Rossi, et al.
American Journal of Human Genetics|May 20, 1999
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factorS Mardy, Y Miura, F Endo, et al.
American Journal of Medical Genetics|July 9, 1999
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patientsM Grasso, F Faravelli, C Lo Nigro, et al.
Hormone Research in Paediatrics|January 10, 2014
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1bD Melis, R Pivonello, M Cozzolino, et al.
Clinical Endocrinology|June 21, 2005
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective studyD Melis, G Parenti, R Gatti, et al.
Genomics|December 28, 1999
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter familyM T Bassi, M P Sperandeo, B Incerti, et al.
Minerva Pediatrica|October 1, 1996
The Williams syndrome: an Italian collaborative studyP Franceschini, A Guala, M P Vardeu, et al.
American Journal of Human Genetics|January 13, 2000
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceM P Sperandeo, M T Bassi, M Riboni, et al.
Pageof 14

Showing results (121-130 of 137) with videos related to

Sort By:
Pageof 14
Journal of Inherited Metabolic Disease|April 8, 2006
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentationS Fecarotta, G Parenti, P Vajro, et al.
American Journal of Human Genetics|March 11, 2000
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromesM P Sperandeo, P Ungaro, M Vernucci, et al.
European Journal of Human Genetics : EJHG|December 22, 1999
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutationsD De Brasi, T Esposito, M Rossi, et al.
American Journal of Human Genetics|May 20, 1999
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factorS Mardy, Y Miura, F Endo, et al.
American Journal of Medical Genetics|July 9, 1999
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patientsM Grasso, F Faravelli, C Lo Nigro, et al.
Hormone Research in Paediatrics|January 10, 2014
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1bD Melis, R Pivonello, M Cozzolino, et al.
Clinical Endocrinology|June 21, 2005
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective studyD Melis, G Parenti, R Gatti, et al.
Genomics|December 28, 1999
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter familyM T Bassi, M P Sperandeo, B Incerti, et al.
Minerva Pediatrica|October 1, 1996
The Williams syndrome: an Italian collaborative studyP Franceschini, A Guala, M P Vardeu, et al.
American Journal of Human Genetics|January 13, 2000
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceM P Sperandeo, M T Bassi, M Riboni, et al.
Pageof 14