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American Journal of Medical Genetics. Part A|January 31, 2014
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphismAmira Masri, Stefania Gimelli, Hanan Hamamy, et al.
European Journal of Medical Genetics|September 24, 2005
Narrowing the deleted region associated with the 15q21 syndromeTiziano Pramparo, Teresa Mattina, Stefania Gimelli, et al.
American Journal of Medical Genetics. Part A|December 8, 2005
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studiesGiorgio Gimelli, Roberto Giorda, Silvana Beri, et al.
Journal of Child Sexual Abuse|May 29, 2010
Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerationsFrancois Ansermet, James Lespinasse, Stefania Gimelli, et al.
International Journal of Molecular Sciences|March 14, 2017
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant ValidationFrancesca Lantieri, Michela Malacarne, Stefania Gimelli, et al.
European Journal of Medical Genetics|November 11, 2008
Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphismsJames Lespinasse, Stefania Gimelli, Frédérique Béna, et al.
Molecular Syndromology|January 8, 2015
Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroonCedrik Tekendo-Ngongang, Sophie Dahoun, Seraphin Nguefack, et al.
American Journal of Medical Genetics. Part A|March 5, 2014
Recurrent microdeletion 2q21.1: report on a new patient with neurological disordersStefania Gimelli, Elisavet Stathaki, Frédérique Béna, et al.
BMC Medical Genetics|October 6, 2012
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problemsValeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro, et al.
European Journal of Human Genetics : EJHG|October 26, 2006
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesisGiorgio Gimelli, Stefania Gimelli, Nazzareno Dimasi, et al.
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