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Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|October 9, 2012
[Pregnancy and Ehlers-Danlos vascular syndrome: patients' care and complications]E Dubruc, S Dupuis-Girod, P Khau Van Kien, et al.Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.Journal Francais D'Ophtalmologie|April 5, 2025
Genotyping methods for Fuchs corneal endothelial dystrophyD Onitiu, I Harzallah, H Vaitinadapoule, et al.Journal of the American Academy of Dermatology|January 1, 1992
Sclerodermatous chronic graft-versus-host disease. Analysis of seven casesO Chosidow, M Bagot, J P Vernant, et al.Neuromuscular Disorders : NMD|August 5, 2014
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotoniaA Furby, S Vicart, J P Camdessanché, et al.The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|November 16, 2011
Binder phenotype in mothers affected with autoimmune disordersE Colin, R Touraine, J M Levaillant, et al.American Journal of Medical Genetics. Part A|November 25, 2024
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic CounselingC Racine, P Callier, R Touraine, et al.Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.Pageof 11