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S Giglio

Showing results (61-70 of 73) with videos related to

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Human Reproduction (Oxford, England)|September 7, 2013
Y-chromosome microdeletions are not associated with SHOX haploinsufficiencyC Chianese, D Lo Giacco, F Tüttelmann, et al.
Human Reproduction (Oxford, England)|March 18, 2014
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiencyC Krausz, C Chianese, D Lo Giacco, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|October 1, 2014
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian familyM Callea, P Nieminen, C E Willoughby, et al.
The Pharmacogenomics Journal|July 23, 2014
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetesR Artuso, A Provenzano, B Mazzinghi, et al.
American Journal of Human Genetics|March 7, 2001
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangementsS Giglio, K W Broman, N Matsumoto, et al.
Clinical Genetics|April 15, 2014
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasiaL Guazzarotti, G Tadini, G E Mancini, et al.
Clinical Genetics|May 31, 2017
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOHA Vetro, D Goidin, I Lesende, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
Circulation|July 25, 2000
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defectsS Giglio, S L Graw, G Gimelli, et al.
Clinical Genetics|April 27, 2011
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA geneL Ferri, C Guido, G la Marca, et al.
Pageof 8

Showing results (61-70 of 73) with videos related to

Sort By:
Pageof 8
Human Reproduction (Oxford, England)|September 7, 2013
Y-chromosome microdeletions are not associated with SHOX haploinsufficiencyC Chianese, D Lo Giacco, F Tüttelmann, et al.
Human Reproduction (Oxford, England)|March 18, 2014
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiencyC Krausz, C Chianese, D Lo Giacco, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|October 1, 2014
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian familyM Callea, P Nieminen, C E Willoughby, et al.
The Pharmacogenomics Journal|July 23, 2014
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetesR Artuso, A Provenzano, B Mazzinghi, et al.
American Journal of Human Genetics|March 7, 2001
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangementsS Giglio, K W Broman, N Matsumoto, et al.
Clinical Genetics|April 15, 2014
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasiaL Guazzarotti, G Tadini, G E Mancini, et al.
Clinical Genetics|May 31, 2017
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOHA Vetro, D Goidin, I Lesende, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
Circulation|July 25, 2000
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defectsS Giglio, S L Graw, G Gimelli, et al.
Clinical Genetics|April 27, 2011
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA geneL Ferri, C Guido, G la Marca, et al.
Pageof 8