Listar Bordeaux Population Health Research Center (BPH) - UMR 1219 por autor "FABRE, Alexandre"
Mostrando ítems 1-5 de 5
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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
ALMES, Marion; SPRAUL, Anne; RUIZ, Mathias ...(Diagnostics. vol. 12, n° 5, 2022-05-07)Article de revueLibre acceso -
ATP7B variant spectrum in a French pediatric Wilson disease cohort
COUCHONNAL, Eduardo; BOUCHARD, Sophie; SANDAHL, Thomas Damgaard ...(European Journal of Medical Genetics. vol. 64, n° 10, pp. 104305, 2021-10)Article de revue -
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France
COUCHONNAL, Eduardo; LION-FRANCOIS, Laurence; GUILLAUD, Olivier ...(Journal of Pediatric Gastroenterology and Nutrition, 2021-06-01)Article de revue -
Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64(10) (2021) 104305]
COUCHONNAL, Eduardo; BOUCHARD, Sophie; SANDAHL, Thomas Damgaard ...(European Journal of Medical Genetics. vol. 64, n° 11, pp. 104341, 2021-09-17)Article de revue -
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis
MASSON, Emmanuelle; EWERS, Maren; PALIWAL, Sumit ...(Pancreatology. vol. 23, n° 1, pp. 48-56, 2023-01)Article de revue