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Orsetta Zuffardi

Showing results (61-70 of 222) with videos related to

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Prenatal Diagnosis|September 30, 2008
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatallySilvia Maitz, Barbara Gentilin, Anna Maria Colli, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|March 3, 2015
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar strokeAnna Bersano, Orsetta Zuffardi, Leonardo Pantoni, et al.
Familial Cancer|August 28, 2014
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypesMarialuisa Quadri, Annalisa Vetro, Viviana Gismondi, et al.
European Journal of Human Genetics : EJHG|March 14, 2008
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletionClaudia Torniero, Bernardo Dalla Bernardina, Francesca Novara, et al.
Plos One|January 24, 2008
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?Flavio Rizzolio, Silvia Bione, Cinzia Sala, et al.
European Journal of Human Genetics : EJHG|February 28, 2008
Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1)Roberto Giorda, M Clara Bonaglia, Greta Milani, et al.
European Journal of Medical Genetics|October 24, 2006
Subtelomeric trisomy 21q: a new benign chromosomal variantMaria Clara Bonaglia, Susan Marelli, Giulietta Gottardi, et al.
American Journal of Medical Genetics. Part A|October 17, 2007
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5qMatteo Della Monica, Fortunato Lonardo, Francesca Faravelli, et al.
Molecular Cytogenetics|September 15, 2016
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literatureEdoardo Errichiello, Francesca Novara, Anna Cremante, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletionElena Cellini, Vittoria Disciglio, Francesca Novara, et al.
Pageof 23

Showing results (61-70 of 222) with videos related to

Sort By:
Pageof 23
Prenatal Diagnosis|September 30, 2008
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatallySilvia Maitz, Barbara Gentilin, Anna Maria Colli, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|March 3, 2015
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar strokeAnna Bersano, Orsetta Zuffardi, Leonardo Pantoni, et al.
Familial Cancer|August 28, 2014
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypesMarialuisa Quadri, Annalisa Vetro, Viviana Gismondi, et al.
European Journal of Human Genetics : EJHG|March 14, 2008
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletionClaudia Torniero, Bernardo Dalla Bernardina, Francesca Novara, et al.
Plos One|January 24, 2008
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?Flavio Rizzolio, Silvia Bione, Cinzia Sala, et al.
European Journal of Human Genetics : EJHG|February 28, 2008
Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1)Roberto Giorda, M Clara Bonaglia, Greta Milani, et al.
European Journal of Medical Genetics|October 24, 2006
Subtelomeric trisomy 21q: a new benign chromosomal variantMaria Clara Bonaglia, Susan Marelli, Giulietta Gottardi, et al.
American Journal of Medical Genetics. Part A|October 17, 2007
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5qMatteo Della Monica, Fortunato Lonardo, Francesca Faravelli, et al.
Molecular Cytogenetics|September 15, 2016
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literatureEdoardo Errichiello, Francesca Novara, Anna Cremante, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletionElena Cellini, Vittoria Disciglio, Francesca Novara, et al.
Pageof 23