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Birth Defects Research. Part A, Clinical and Molecular Teratology|December 18, 2013
Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in AuvergneAnne Debost-Legrand, Carole Goumy, Hélène Laurichesse-Delmas, et al.
European Journal of Human Genetics : EJHG|December 3, 2021
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing lossChristel Vaché, David Baux, Julie Bianchi, et al.
Prenatal Diagnosis|September 16, 2010
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromeRadu Harbuz, James Lespinasse, Stéphanie Boulet, et al.
European Journal of Medical Genetics|July 17, 2012
An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairmentCéline Pebrel-Richard, Stéphan Kemeny, Laetitia Gouas, et al.
European Journal of Medical Genetics|August 10, 2014
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delayStéphan Kemeny, Céline Pebrel-Richard, Eléonore Eymard-Pierre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndromePauline Arnaud, Hélène Morel, Olivier Milleron, et al.
Reproductive Biomedicine Online|April 23, 2018
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriageGaëlle Salaun, Andrei Tchirkov, Christine Francannet, et al.
American Journal of Medical Genetics. Part A|January 16, 2007
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral cleftsCécile Chevrier, Claire Perret, Michel Bahuau, et al.
European Journal of Medical Genetics|July 12, 2021
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotypeFlorian Cherik, Mathis Lepage, Ganaelle Remerand, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndromeAnne Debost-Legrand, Eleonore Eymard-Pierre, Céline Pebrel-Richard, et al.
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