Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Human Mutation|October 16, 2012
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapiesAlexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasiaAnouck Schneider, Brigitte Benzacken, Agnès Guichet, et al.
Human Genetics|December 25, 2010
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategyAlix de Becdelièvre, Catherine Costa, Jean-Marie Jouannic, et al.
European Journal of Medical Genetics|July 12, 2015
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestationsSophie Brisset, Yline Capri, Audrey Briand-Suleau, et al.
American Journal of Medical Genetics. Part A|January 18, 2006
Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomaliesMartine Doco-Fenzy, Pierre Mauran, Jean Marie Lebrun, et al.
European Journal of Medical Genetics|July 12, 2011
Genotype-phenotype correlation in 13q13.3-q21.3 deletionLucie Tosca, Sophie Brisset, François M Petit, et al.
Human Mutation|March 18, 2014
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutationsAlexandre Hinzpeter, Alix de Becdelièvre, Eric Bieth, et al.
European Journal of Human Genetics : EJHG|April 29, 2010
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicismLucie Tosca, Sophie Brisset, François M Petit, et al.
Molecular Cytogenetics|March 4, 2014
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23Sophie Brisset, Zuzana Slamova, Petra Dusatkova, et al.
Molecular Genetics & Genomic Medicine|September 28, 2021
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2CLucie Tosca, Loïc Drévillon, Aurélie Mouka, et al.
Pageof 7