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European Journal of Human Genetics : EJHG|February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
Journal of Human Genetics|September 7, 2006
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndromeMilena Cau, Maria Addis, Rita Congiu, et al.
European Journal of Medical Genetics|September 3, 2008
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephalyVirginia M Ginocchio, Daniele De Brasi, Rita Genesio, et al.
European Journal of Human Genetics : EJHG|March 2, 2012
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadiasSimone Gana, Pierangelo Veggiotti, Giusy Sciacca, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletionFrancesca Novara, Franco Stanzial, Elena Rossi, et al.
European Journal of Medical Genetics|February 14, 2013
MEF2C deletions and mutations versus duplications: a clinical comparisonFrancesca Novara, Ambra Rizzo, Gloria Bedini, et al.
European Journal of Human Genetics : EJHG|July 22, 2004
Inverted duplications: how many of them are mosaic?Tiziano Pramparo, Sabrina Giglio, Giuliana Gregato, et al.
Parkinsonism & Related Disorders|October 17, 2009
alpha-Synuclein multiplication analysis in Italian familial Parkinson diseaseFrancesca Sironi, Luca Trotta, Angelo Antonini, et al.
Human Genetics|July 26, 2005
Reciprocal translocations: a trap for cytogenetists?Roberto Ciccone, Roberto Giorda, Giuliana Gregato, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearanceJill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
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