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Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.Reproductive Biology and Endocrinology : RB&E|January 11, 2023
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis developmentKhouloud Rjiba, Soumaya Mougou-Zerelli, Imen Hadj Hamida, et al.American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.Human Mutation|September 25, 2009
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationSoumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, et al.Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.Molecular Cytogenetics|February 14, 2026
Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insightsRim Khelifi, Houcemeddine Othmane, Houda Ajmi, et al.Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.Pageof 3