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Mechanisms of Development|August 15, 2002
Expression of the SMADIP1 gene during early human developmentYolanda Espinosa-Parrilla, Jeanne Amiel, Joëlle Augé, et al.
Investigative Ophthalmology & Visual Science|February 19, 2010
Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segmentMyriam Chaabouni, Heather Etchevers, Marie Christine De Blois, et al.
Human Mutation|November 19, 2011
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisisAlexis Robinson, Sarah Escuin, Kit Doudney, et al.
European Journal of Medical Genetics|August 25, 2007
Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18qNoëlle Souraty, Damien Sanlaville, Rima Chédid, et al.
American Journal of Medical Genetics. Part A|October 6, 2015
First fetal case of the 8q24.3 contiguous genes syndromeConstance Wells, Emmanuel Spaggiari, Valérie Malan, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 31, 2007
Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomyVeronique Fremeaux-Bacchi, Damien Sanlaville, Soraya Menouer, et al.
The Journal of Clinical Endocrinology and Metabolism|October 21, 2004
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformationsSylvia Sura Trueba, Joëlle Augé, Géraldine Mattei, et al.
European Journal of Medical Genetics|September 25, 2007
Pure proximal deletion of chromosome 21 and kyphosisBoris Keren, Céline Bernardin, Annick Toutain, et al.
Molecular Human Reproduction|June 28, 2002
Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determinationPierre F Ray, Nelly Frydman, Tania Attié, et al.
Plos One|February 4, 2012
ISL1 directly regulates FGF10 transcription during human cardiac outflow formationChristelle Golzio, Emmanuelle Havis, Philippe Daubas, et al.
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