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1 . Academic Journal
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
저자
by
Bergougnoux, A.
;
Billet, A.
;
Ka, C.
;
Heller, M.
;
Degrugillier, F.
, et al.
소스
In
Journal of Cystic Fibrosis
May 2023 22(3):515-524
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7 . Academic Journal
Information needs on nutrition in link to cancer prevention among cancer patients, high-risk individuals and general population – A national cross-sectional study
저자
by
Veron, L.
;
Chaltiel, D.
;
Raynard, B.
;
Rassy, N.
;
Scotté, F.
, et al.
소스
In
Clinical Nutrition ESPEN
April 2023 54:421-429
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7 . Academic Journal
Penetrance is a critical parameter for assessing the disease liability of CFTR variants
저자
by
Boussaroque, A.
;
Audrézet, M.-P.
;
Raynal, C.
;
Sermet-Gaudelus, I.
;
Bienvenu, T.
, et al.
소스
In
Journal of Cystic Fibrosis
November 2020 19(6):949-954
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7 . Academic Journal
CFTR gene variants, epidemiology and molecular pathology
저자
by
Bareil, C.
;
Bergougnoux, A.
.
소스
In
Archives de pédiatrie
February 2020 27 Supplement 1:S8-S12
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4 . Academic Journal
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene
저자
by
Bergougnoux, A.
;
Délétang, K.
;
Pommier, A.
;
Varilh, J.
;
Houriez, F.
, et al.
소스
In
Journal of Cystic Fibrosis
July 2019 18(4):468-475
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7 . Academic Journal
P075 Discrepancy between in vitro CFTR functional analysis and clinical response to elexacaftor/tezacaftor/ivacaftor (ETI) in a homozygous S364P (c.1090T>C) patient with cystic fibrosis
저자
by
de Sevin, A.
;
Taulan-Cadras, M.
;
Raynal, C.
;
Bergougnoux, A.
;
Socchi, F.
, et al.
소스
In
Journal of Cystic Fibrosis
June 2023 22 Supplement 2:S86-S86
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7 . Academic Journal
Rectification d’un diagnostic initial d’insensibilité complète aux androgènes : complémentarité de l’examen clinique et de l’analyse génétique
저자
by
Bergougnoux, A.
;
Faivre, M.
;
Servant, N.
;
Sultan, C.
;
Gaspari, L.
, et al.
소스
In
Annales d'Endocrinologie
February 2023 84(1):166-166
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7 . Academic Journal
Hedgehog Interacting Protein (HHIP) polymorphisms involved in early chronic obstructive pulmonary disease (COPD)
저자
by
Lahmar, M.Z.
;
Ahmed, E.
;
Vachier, I.
;
Fort, A.
;
Marin, G.
, et al.
소스
In
Revue des Maladies Respiratoires
February 2022 39(2):115-115
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7 . Academic Journal
Un nouveau variant en 5′UTR du gène du récepteur des androgènes (RA) chez deux patientes porteuses d’insensibilité complète aux androgens (ICA) avec séquence codante normale
저자
by
Bergougnoux, A.
;
Ea, V.
;
Albarel, F.
;
Reynaud, R.
;
Servant, N.
, et al.
소스
In
Annales d'Endocrinologie
September 2020 81(4):245-245
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7 . Academic Journal
WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database
저자
by
Sasorith, S.
;
Bareil, C.
;
Lemonnier, L.
;
Dehillotte, C.
;
Farge, A.
, et al.
소스
In
Journal of Cystic Fibrosis
June 2020 19 Supplement 2:S33-S33
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