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Lidia Larizza

Showing results (41-50 of 150) with videos related to

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European Journal of Human Genetics : EJHG|April 1, 2004
Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed childDaniela Giardino, Palma Finelli, Francesco Paolo Amico, et al.
Nature Genetics|April 11, 2006
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio, Angelo Selicorni, Maria Luisa Focarelli, et al.
Gene|April 28, 2012
Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literatureMaria Paola Recalcati, Melissa Bellini, Lorenzo Norsa, et al.
European Journal of Pediatrics|May 13, 2004
Smith-Magenis syndrome and growth hormone deficiencyEmanuela Spadoni, Patrizia Colapietro, Mauro Bozzola, et al.
European Journal of Medical Genetics|April 15, 2010
Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficitsMaria Paola Recalcati, Emanuele Valtorta, Lorenza Romitti, et al.
European Journal of Medical Genetics|August 23, 2015
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literatureRossella Caselli, Lucia Ballarati, Aglaia Vignoli, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)Daniela Giardino, Palma Finelli, Giulietta Gottardi, et al.
Cancer Genetics|July 19, 2011
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletionDaniela Rusconi, Emanuele Valtorta, Ornella Rodeschini, et al.
International Journal of Pediatric Otorhinolaryngology|April 30, 2014
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndromePaola Marchisio, Angelo Selicorni, Sonia Bianchini, et al.
Molecular Cytogenetics|April 4, 2015
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndromeMilena Crippa, Daniela Rusconi, Chiara Castronovo, et al.
Pageof 15

Showing results (41-50 of 150) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|April 1, 2004
Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed childDaniela Giardino, Palma Finelli, Francesco Paolo Amico, et al.
Nature Genetics|April 11, 2006
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio, Angelo Selicorni, Maria Luisa Focarelli, et al.
Gene|April 28, 2012
Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literatureMaria Paola Recalcati, Melissa Bellini, Lorenzo Norsa, et al.
European Journal of Pediatrics|May 13, 2004
Smith-Magenis syndrome and growth hormone deficiencyEmanuela Spadoni, Patrizia Colapietro, Mauro Bozzola, et al.
European Journal of Medical Genetics|April 15, 2010
Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficitsMaria Paola Recalcati, Emanuele Valtorta, Lorenza Romitti, et al.
European Journal of Medical Genetics|August 23, 2015
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literatureRossella Caselli, Lucia Ballarati, Aglaia Vignoli, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)Daniela Giardino, Palma Finelli, Giulietta Gottardi, et al.
Cancer Genetics|July 19, 2011
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletionDaniela Rusconi, Emanuele Valtorta, Ornella Rodeschini, et al.
International Journal of Pediatric Otorhinolaryngology|April 30, 2014
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndromePaola Marchisio, Angelo Selicorni, Sonia Bianchini, et al.
Molecular Cytogenetics|April 4, 2015
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndromeMilena Crippa, Daniela Rusconi, Chiara Castronovo, et al.
Pageof 15