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European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.Journal of Medical Genetics|June 19, 2016
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohortCamille Tlemsani, Armelle Luscan, Nicolas Leulliot, et al.European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.European Journal of Human Genetics : EJHG|October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsCamille Leroy, Emilie Landais, Sylvain Briault, et al.Biological Psychiatry|January 9, 2016
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and InhibitionLoyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, et al.Journal of Medical Genetics|October 8, 2025
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literatureMarion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, et al.American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.Pageof 8