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Revue De Pneumologie Clinique|July 17, 2013
[Lung diseases in children associated with inherited disorders of surfactant metabolism]C Delestrain, F Flamein, L Jonard, et al.Advances in Experimental Medicine and Biology|January 8, 2021
Heimler SyndromeS Mechaussier, I Perrault, H Dollfus, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 13, 2012
[Genetic disorders of surfactant]R Epaud, L Jonard, H Ducou-le-Pointe, et al.Clinical Genetics|November 26, 2009
Phenotype and genotype in females with POU3F4 mutationsS Marlin, M P Moizard, A David, et al.International Journal of Immunogenetics|January 3, 2013
Screening of SLC26A4 gene in autoimmune thyroid diseasesR Kallel, M Niasme-Grare, S Belguith-Maalej, et al.International Journal of Pediatric Otorhinolaryngology|October 18, 2005
Results of cochlear implantation in two children with mutations in the OTOF geneI Rouillon, A Marcolla, I Roux, et al.American Journal of Medical Genetics. Part A|May 27, 2010
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysisS Marlin, H Ducou Le Pointe, M Le Merrer, et al.Journal of Medical Genetics|May 16, 2009
New surfactant protein C gene mutations associated with diffuse lung diseaseL Guillot, R Epaud, G Thouvenin, et al.Gene|July 16, 2013
Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairmentC Bonnet, M Louha, N Loundon, et al.International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.Pageof 2