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Case Reports in Pediatrics|August 4, 2017
First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VIIHazim Kadhim, Valérie Segers, Catheline Vilain, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutationJulie Désir, Marie Cassart, Catherine Donner, et al.
Molecular Vision|July 21, 2012
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophyJulie Désir, Frauke Coppieters, Nicole Van Regemorter, et al.
Journal of Perinatal Medicine|January 1, 2022
Rarity of fetal cells in exocervical samples for noninvasive prenatal diagnosisLaura Bourlard, Yannick Manigart, Catherine Donner, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucomaJulie Désir, Yves Sznajer, Fanny Depasse, et al.
Clinical Case Reports|July 23, 2020
Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutationCaroline Gounongbé, Martina Marangoni, Vanessa Gouder de Beauregard, et al.
Prenatal Diagnosis|March 15, 2006
Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA dataYusuf Tunca, Sebahattin Vurucu, Jasmine Parma, et al.
Molecular Genetics & Genomic Medicine|September 4, 2021
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrheaAsma Sassi, Julie Désir, Sarah Duerinckx, et al.
American Journal of Medical Genetics. Part A|June 23, 2016
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsyStéphanie Moortgat, Julie Désir, Valérie Benoit, et al.
European Journal of Medical Genetics|October 1, 2019
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutationCeline De Graer, Martina Marangoni, Stephanie Romnée, et al.
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