Showing results (331-340 of 555) with videos related to

Sort By:
Pageof 56
Clinical and Experimental Immunology|July 11, 2000
T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndromeM Pierdominici, M Marziali, A Giovannetti, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Laura Bernardini, Viola Alesi, Sara Loddo, et al.
Cardiology in the Young|November 28, 2009
New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndromeAlessia Del Pasqua, Gabriele Rinelli, Alessandra Toscano, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrumValentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, et al.
The Journal of Biological Chemistry|September 15, 2007
FSCB, a novel protein kinase A-phosphorylated calcium-binding protein, is a CABYR-binding partner involved in late steps of fibrous sheath biogenesisYan-Feng Li, Wei He, Kula N Jha, et al.
Epilepsy & Behavior : E&B|May 14, 2020
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic conditionMarina Trivisano, Manuel Rivera, Alessandra Terracciano, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteriesGerardo Piacentini, M Cristina Digilio, Rossella Capolino, et al.
Molecular Syndromology|December 23, 2011
RASopathies: Clinical Diagnosis in the First Year of LifeM C Digilio, F Lepri, A Baban, et al.
Brain Sciences|November 10, 2019
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndromePaolo Alfieri, Francesco Demaria, Serena Licchelli, et al.
European Journal of Medical Genetics|December 11, 2012
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, et al.
Pageof 56