Canlyniadau Chwilio - M.‐P. Audrézet
- Dangos 1 - 4 canlyniadau o 4
-
1
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young Fren... gan Emmanuelle Masson, Jian‐Min Chen, M.‐P. Audrézet, D.N. Cooper, Claude Férec
Cyhoeddwyd 2013Artigo -
2
Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease gan Binu Porath, Vladimir G. Gainullin, Émilie Cornec-Le Gall, Elizabeth K. Dillinger, Christina M. Heyer, Katharina Hopp, Marie E. Edwards, Charles D. Madsen, Sarah R. Mauritz, Carly J. Banks, Saurabh Baheti, Bharathi Reddy, J.I. Herrero, Jesús M. Bañales, Marie C. Hogan, Velibor Tasić, Terry Watnick, Arlene B. Chapman, Cécile Vigneau, Frédéric Lavainne, M.‐P. Audrézet, Claude Férec, Yannick Le Meur, Vicente E. Torres, Peter C. Harris
Cyhoeddwyd 2016Artigo -
3
PKD2 -Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis gan Émilie Cornec-Le Gall, M.‐P. Audrézet, E. Renaudineau, Maryvonne Hourmant, Christophe Charasse, E. Michez, T. Frouget, Cécile Vigneau, Jacques Dantal, P. Siohan, Hélène Longuet, Philippe Gatault, Laure Écotière, Frank Bridoux, Lise Mandart, Catherine Hanrotel‐Saliou, C. Stanescu, Pascale Depraêtre, Sophie Gié, M Massad, Aude Kersalé, Guillaume Séret, Jean‐François Augusto, Philippe Saliou, Sandrine Maestri, Jian‐Min Chen, Peter C. Harris, Claude Férec, Yannick Le Meur
Cyhoeddwyd 2017Artigo -
4
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening gan Christel Thauvin‐Robinet, À. Munck, Frédéric Huet, Emmanuelle Génin, Gil Bellis, Élodie Gautier, M-P Audrezet, Claude Férec, G. Lalau, M. des Georges, M. Claustres, Thierry Bienvenu, Bénédicte Gérard, Pierre Boisseau, Faïza Cabet-Bey, D Feldmann, Christine Clavel, Éric Bieth, A. Iron, Brigitte Simon‐Bouy, C Costa, R.A. Medina López, Julie Leclerc, D. Hubert, R. Nové-Josserand, Isabelle Sermet‐Gaudelus, G. Rault, J Flori, Sabine Léroy, Nathalie Wizla, G. Bellon, A. Haloun, S. Bui, G. Dacremont, Harriet Corvol, Albrecht M. Clement, Elise Houssin, Christine Binquet, Claire Bonithon‐Kopp, C. Alberti-Boulmé, Michael A. Morris, Laurence Faivre, M. Goossens, M. Roussey
Cyhoeddwyd 2009Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Internal medicine
Medicine
Biology
Disease
Gene
Genetics
Allele
Environmental health
Genotype
Mutation
Polycystic kidney disease
Population
Asymptomatic
Autosomal dominant polycystic kidney disease
Cohort
Compound heterozygosity
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
Exon
Genetic counseling
Genetic testing
Genetic variation
Intron
Kidney
Kidney disease
Liver transplantation
Nephrology
PKD1
Pancreatitis
Pediatrics