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European Journal of Human Genetics : EJHG|October 22, 2009
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionMarlène Rio, Valérie Malan, Sarah Boissel, et al.
Cytogenetic and Genome Research|November 18, 2014
17q21.31 microdeletion: brain anomalies leading to prenatal diagnosisMatthieu Egloff, Ferechte Encha-Razavi, Catherine Garel, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthValérie Malan, Suzanne Chevallier, Gwendoline Soler, et al.
Prenatal Diagnosis|May 28, 2004
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor geneLaurence Faivre, Thierry Rousseau, Nicole Laurent, et al.
European Journal of Human Genetics : EJHG|October 31, 2002
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literatureLaurence Faivre, Philippe Gosset, Valérie Cormier-Daire, et al.
Prenatal Diagnosis|July 13, 2019
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defectsMarguerite Hureaux, Selima Ben Miled, Nicolas Chatron, et al.
European Journal of Human Genetics : EJHG|March 3, 2005
Functional disomy of the Xq28 chromosome regionDamien Sanlaville, Marguerite Prieur, Marie-Christine de Blois, et al.
Cytogenetic and Genome Research|January 7, 2016
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic TestValérie Malan, Jean-Michel Lapierre, Matthieu Egloff, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
Prenatal Diagnosis|December 11, 2021
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case seriesMarion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, et al.
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