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P Gasparini

Showing results (181-190 of 204) with videos related to

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American Journal of Human Genetics|March 1, 1997
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1L Bisceglia, M J Calonge, A Totaro, et al.
Human Genetics|October 1, 1996
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphismL Bisceglia, M J Calonge, L Dello Strologo, et al.
British Journal of Haematology|October 16, 1999
Suppression of CDA II expression in a homozygoteA Beauchamp-Nicoud, P O Schischmanoff, N Alloisio, et al.
Human Molecular Genetics|April 20, 2001
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairmentN López-Bigas, M Olivé, R Rabionet, et al.
Journal of Medical Screening|August 13, 1999
Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosisP Gasparini, E Arbustini, G Restagno, et al.
Oncogene|September 20, 2016
Pathobiological implications of the d16HER2 splice variant for stemness and aggressiveness of HER2-positive breast cancerL Castagnoli, G C Ghedini, A Koschorke, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 20, 2007
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafnessR Ficarella, F Di Leva, M Bortolozzi, et al.
European Journal of Human Genetics : EJHG|August 10, 1999
Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC studyV Annese, A Latiano, P Bovio, et al.
European Journal of Human Genetics : EJHG|March 1, 1997
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean familiesP Gasparini, X Estivill, V Volpini, et al.
Brain & Development|December 12, 2001
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlationL Giunti, S Pelagatti, V Lazzerini, et al.
Pageof 21

Showing results (181-190 of 204) with videos related to

Sort By:
Pageof 21
American Journal of Human Genetics|March 1, 1997
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1L Bisceglia, M J Calonge, A Totaro, et al.
Human Genetics|October 1, 1996
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphismL Bisceglia, M J Calonge, L Dello Strologo, et al.
British Journal of Haematology|October 16, 1999
Suppression of CDA II expression in a homozygoteA Beauchamp-Nicoud, P O Schischmanoff, N Alloisio, et al.
Human Molecular Genetics|April 20, 2001
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairmentN López-Bigas, M Olivé, R Rabionet, et al.
Journal of Medical Screening|August 13, 1999
Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosisP Gasparini, E Arbustini, G Restagno, et al.
Oncogene|September 20, 2016
Pathobiological implications of the d16HER2 splice variant for stemness and aggressiveness of HER2-positive breast cancerL Castagnoli, G C Ghedini, A Koschorke, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 20, 2007
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafnessR Ficarella, F Di Leva, M Bortolozzi, et al.
European Journal of Human Genetics : EJHG|August 10, 1999
Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC studyV Annese, A Latiano, P Bovio, et al.
European Journal of Human Genetics : EJHG|March 1, 1997
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean familiesP Gasparini, X Estivill, V Volpini, et al.
Brain & Development|December 12, 2001
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlationL Giunti, S Pelagatti, V Lazzerini, et al.
Pageof 21