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Orphanet Journal of Rare Diseases|November 6, 2009
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsLaura Bernardini, Stefania Gimelli, Cristina Gervasini, et al.Journal of Neurology|November 20, 2009
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxiaPia Irene Anna Rossi, Carlotta Maria Vaccari, Alessandra Terracciano, et al.International Journal of Molecular Medicine|February 3, 2007
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomaliesEmanuele Panza, Giorgio Gimelli, Mario Passalacqua, et al.European Journal of Human Genetics : EJHG|July 24, 2008
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotypeMaria Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, et al.Human Mutation|October 21, 2010
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tractStefania Gimelli, Gianluca Caridi, Silvana Beri, et al.Clinical Genetics|September 15, 2025
Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 MicroduplicationOmar Zgheib, Thomas Rio Frio, Jean-Marie Pellegrinelli, et al.European Journal of Medical Genetics|November 22, 2008
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndromeValeria Capra, Patrizia De Marco, Elisa Merello, et al.Plos One|April 30, 2010
A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changesOuti Hovatta, Marisa Jaconi, Virpi Töhönen, et al.Journal of Human Genetics|May 3, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherNelle Lambert, Corinne Dauve, Emmanuelle Ranza, et al.Stem Cells Translational Medicine|November 1, 2022
Hyaline Cartilage Microtissues Engineered from Adult Dedifferentiated Chondrocytes: Safety and Role of WNT SignalingHalah Kutaish, Laura Bengtsson, Philippe Matthias Tscholl, et al.Pageof 7