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Plos One|August 1, 2012
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2Viviane Baral, Asma Chaoui, Yuli Watanabe, et al.The Journal of Pediatrics|March 27, 2007
Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosisSerge Pissard, Mariane de Montalembert, Dora Bachir, et al.Journal of Hepatology|July 20, 2002
Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitisEmmanuelle Girodon, Damien Sternberg, Olivier Chazouillères, et al.European Journal of Human Genetics : EJHG|March 2, 2012
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4Nadége Bondurand, Virginie Fouquet, Viviane Baral, et al.Haematologica|May 22, 2008
A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor geneMaha Al-Sheikh, Elodie Mazurier, Betty Gardie, et al.Haematologica|January 12, 2005
Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinaseCatherine Costa, Juliette Albuisson, Thi Hao Le, et al.Plos One|April 13, 2011
COMMD1-mediated ubiquitination regulates CFTR traffickingLoïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, et al.British Journal of Haematology|May 18, 2006
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutationsSerge Pissard, Isabelle Max-Audit, Laurent Skopinski, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 5, 2008
Cystic fibrosis carrier frequency and estimated prevalence of the disease in MoroccoIlham Ratbi, Emmanuelle Génin, Marie Legendre, et al.Annals of Neurology|October 8, 2004
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunctionHenry Houlden, Mathilde Girard, Charles Cockerell, et al.Pageof 7