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Prenatal Diagnosis
|
September 30, 2008
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally
Silvia 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 stroke
Anna 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 phenotypes
Marialuisa 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 deletion
Claudia 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 variant
Maria 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 5q
Matteo 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 literature
Edoardo 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 deletion
Elena Cellini, Vittoria Disciglio, Francesca Novara, et al.
Page
of 23
Search research articles
Search
Showing results (61-70 of 222) with videos related to
Sort By:
Page
of 23
Prenatal Diagnosis
|
September 30, 2008
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally
Silvia 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 stroke
Anna 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 phenotypes
Marialuisa 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 deletion
Claudia 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 variant
Maria 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 5q
Matteo 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 literature
Edoardo 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 deletion
Elena Cellini, Vittoria Disciglio, Francesca Novara, et al.
Page
of 23