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American Journal of Medical Genetics. Part A|February 5, 2003
Oligoyric microcephaly in a child with Williams syndromeFrancesca Faravelli, Stefano D'Arrigo, Irene Bagnasco, et al.
American Journal of Medical Genetics. Part A|November 22, 2016
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndromePaola Cianci, Grazia Fazio, Sara Casagranda, et al.
American Journal of Medical Genetics. Part A|September 20, 2012
A new report of Cornelia de Lange syndrome associated with split hand and feetChiara Barboni, Anna Cereda, Milena Mariani, et al.
Pediatric Nephrology (Berlin, Germany)|November 15, 2002
Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndromeCinzia Sforzini, Donatella Milani, Emilio Fossali, et al.
Research in Developmental Disabilities|April 25, 2022
Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromesLudovica Giani, Giovanni Michelini, Paola Francesca Ajmone, et al.
European Journal of Medical Genetics|April 28, 2021
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohortAlex Moretti, Paola Cianci, Anita De Paoli, et al.
European Journal of Medical Genetics|January 3, 2012
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotoniaLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observationSerena Motta, Debora Sala, Alessandra Sala, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1Paola Cianci, Valentina Tono, Alessandra Sala, et al.
European Journal of Medical Genetics|July 13, 2010
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomaliesRossella Caselli, Lucia Ballarati, Angelo Selicorni, et al.
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