תוצאות חיפוש - E. Girodon
- Showing 1 - 4 results of 4
-
1
-
2
ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction מאת Isabelle Sermet‐Gaudelus, E. Girodon, F. Vermeulen, George M. Solomon, Paola Melotti, Simon Y. Graeber, Inez Bronsveld, Steven M. Rowe, M. Wilschanski, Burkhard Tümmler, Garry R. Cutting, Tanja Gonska
יצא לאור 2022Artigo -
3
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene מאת Anne Bergougnoux, Karine Delétang, A. Pommier, Jessica Varilh, Florence Houriez, J.P. Altiéri, M. Kœnig, Claude Férec, Mireille Claustres, G. Lalau, Thierry Bienvenu, Marie‐Pierre Audrézet, A. Pagin, E. Girodon, Caroline Raynal, Magali Taulan‐Cadars
יצא לאור 2018Artigo -
4
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France מאת Mireille Claustres, Caroline Guittard, Dominique Bozon, Fran�oise Chevalier, C. Verlingue, Claude Férec, E. Girodon, C�cile Cazeneuve, Thierry Bienvenu, G. Lalau, Viviane Dumur, Delphine Feldmann, Éric Bieth, Martine Blayau, Christine Clavel, Isabelle Creveaux, Marie‐Claire Malinge, Nicole Monnier, Perrine Malzac, Herv� Mittre, Jean‐Claude Chomel, Jean‐Paul Bonnefont, A. Iron, Mich�le Chery, Marie des Georges
יצא לאור 2000Artigo
כלי חיפוש:
נושאים קשורים
Biology
Cystic fibrosis
Genetics
Medicine
Gene
Cystic fibrosis transmembrane conductance regulator
Internal medicine
Mutation
Phenotype
Allele
Bioinformatics
Clinical phenotype
Compound heterozygosity
Computational biology
Disease
Endocrinology
Environmental health
Ex vivo
Gastroenterology
Genotype
In vivo
Ivacaftor
Medical genetics
Mendelian inheritance
Pathology
Penetrance
Population
Sweat test
Vas deferens