Showing results (81-90 of 527) with videos related to

Sort By:
Pageof 53
Italian Journal of Pediatrics|May 15, 2020
Genetics of atrioventricular canal defectsFlaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
American Journal of Medical Genetics|September 5, 2002
Primary hypothyroidism and osteopenia associated with Neuhauser syndromeAnna Sarkozy, Rita Mingarelli, Francesco Brancati, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
Ablepharon-macrostomia syndrome in a 46-year-old womanFrancesco Brancati, Rita Mingarelli, Anna Sarkozy, et al.
European Journal of Human Genetics : EJHG|June 26, 2002
Guidelines for the appropriate use of genetic tests in infertile couplesCarlo Foresta, Alberto Ferlin, Luca Gianaroli, et al.
American Journal of Medical Genetics. Part A|March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patientsMaria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.
Clinical Genetics|March 18, 2021
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 geneEmanuele Agolini, Elena Botta, Mariachiara Lodi, et al.
European Journal of Medical Genetics|August 17, 2010
Azoospermia in a man with a constitutional ring 22 chromosomeDaniela Zuccarello, Bruno Dallapiccola, Antonio Novelli, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomaliesFrancesco Brancati, Marco Castori, Rita Mingarelli, et al.
Giornale Italiano Di Cardiologia (2006)|February 8, 2013
[Congenital heart diseases in women]Carolina Putotto, Marta Unolt, Angela Caiaro, et al.
Pageof 53