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Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.Nature Genetics|July 7, 2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongationChristel Thauvin-Robinet, Jaclyn S Lee, Estelle Lopez, et al.Surgical Endoscopy|October 5, 2002
Laparoscopic liver resection of benign liver tumorsB Descottes, D Glineur, F Lachachi, et al.European Journal of Human Genetics : EJHG|September 24, 2015
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityAnne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, et al.Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.Molecular Ecology Resources|May 14, 2011
Permanent Genetic Resources added to Molecular Ecology Resources database 1 January 2009-30 April 2009, L G Abercrombie, C M Anderson, et al.Pageof 26