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Showing results (61-70 of 67) with videos related to

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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 Medical Genetics|July 12, 1996
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneityP Chiurazzi, M Genuardi, L Kozak, et al.
American Journal of Medical Genetics. Part A|March 21, 2008
Holt-Oram syndrome associated with anomalies of the feetL Garavelli, D De Brasi, R Verri, 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.
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.
Human Mutation|May 25, 1999
Cystathionine beta-synthase mutations in homocystinuriaJ P Kraus, M Janosík, V Kozich, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
Pageof 7

Showing results (61-70 of 67) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 67 results.
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 Medical Genetics|July 12, 1996
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneityP Chiurazzi, M Genuardi, L Kozak, et al.
American Journal of Medical Genetics. Part A|March 21, 2008
Holt-Oram syndrome associated with anomalies of the feetL Garavelli, D De Brasi, R Verri, 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.
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.
Human Mutation|May 25, 1999
Cystathionine beta-synthase mutations in homocystinuriaJ P Kraus, M Janosík, V Kozich, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
Pageof 7