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O Zuffardi

Showing results (101-110 of 159) with videos related to

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Journal of Medical Genetics|November 15, 2005
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeM C Bonaglia, R Giorda, E Mani, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalitiesC Battisti, M C Bonaglia, S Giglio, et al.
FEBS Letters|May 23, 1998
Genomic structure and chromosomal location of the human TGFbeta-receptor interacting protein-1 (TRIP-1) gene to 1p34.1C Galli-Stauber, G Raho, D Rossi, et al.
Genomics|October 1, 1991
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesisB Bardoni, O Zuffardi, S Guioli, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2qM C Bonaglia, R Giorda, G Poggi, et al.
Human Genetics|January 1, 1983
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainmentM Fraccaro, O Zuffardi, E Bühler, et al.
Clinical Genetics|April 24, 2010
Refining the phenotype associated with MEF2C haploinsufficiencyF Novara, S Beri, R Giorda, et al.
Human Genetics|May 1, 1993
Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to YqB Bardoni, G Floridia, S Guioli, et al.
Journal of Medical Genetics|November 1, 1993
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequencesE Rossi, G Floridia, M Casali, et al.
Gene|December 17, 2013
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotypeI Papoulidis, E Papageorgiou, E Siomou, et al.
Pageof 16

Showing results (101-110 of 159) with videos related to

Sort By:
Pageof 16
Journal of Medical Genetics|November 15, 2005
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeM C Bonaglia, R Giorda, E Mani, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalitiesC Battisti, M C Bonaglia, S Giglio, et al.
FEBS Letters|May 23, 1998
Genomic structure and chromosomal location of the human TGFbeta-receptor interacting protein-1 (TRIP-1) gene to 1p34.1C Galli-Stauber, G Raho, D Rossi, et al.
Genomics|October 1, 1991
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesisB Bardoni, O Zuffardi, S Guioli, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2qM C Bonaglia, R Giorda, G Poggi, et al.
Human Genetics|January 1, 1983
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainmentM Fraccaro, O Zuffardi, E Bühler, et al.
Clinical Genetics|April 24, 2010
Refining the phenotype associated with MEF2C haploinsufficiencyF Novara, S Beri, R Giorda, et al.
Human Genetics|May 1, 1993
Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to YqB Bardoni, G Floridia, S Guioli, et al.
Journal of Medical Genetics|November 1, 1993
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequencesE Rossi, G Floridia, M Casali, et al.
Gene|December 17, 2013
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotypeI Papoulidis, E Papageorgiou, E Siomou, et al.
Pageof 16