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1 . Academic Journal
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis
저자
by
Goubau, C
;
Wilschanski, M
;
Skalická, V
;
Lebecque, P
;
Southern, K W
, et al.
소스
Thorax
. Aug 01, 2009 64(8):683-691
Full Text (BMJ Journals)
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7 . Academic Journal
A New Large CFTR Rearrangement Illustrates the Importance of Searching for Complex Alleles
저자
by
Niel, F
;
Legendre, M
;
Bienvenu, T
;
Bieth, E
;
Lalau, G
, et al.
소스
Human Mutation
. Jul 01, 2006 27(7):1-11
Web of Science
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7 . Academic Journal
Novel CFTR mutations in black cystic fibrosis patients
저자
by
Feuillet-Fieux, M N
;
Ferrec, M
;
Gigarel, N
;
Thuillier, L
;
Sermet, I
, et al.
소스
Clinical Genetics
. Apr 01, 2004 65(4):284-287
Web of Science
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7 .
Guideline on the design and conduct of cystic fibrosis clinical trials: The European Cystic Fibrosis Society-Clinical Trial Network (ECFS-CTN)
저자
by
de Boeck, K
;
Bulteel, V
;
Tiddens, H.A.W.M.
;
Wagner, T
;
Fajac, I
, et al.
소스
Journal of Cystic Fibrosis, 9(suppl 3), S58-S65. Elsevier
Journal of Cystic Fibrosis, 10(suppl 2), S67-S74. Elsevier
Scopus
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7 . Academic Journal
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
저자
by
Bergwitz, C
;
Roslin, NM
;
Tieder, M
;
Loredo-Osti, JC
;
Bastepe, M
, et al.
소스
AMERICAN JOURNAL OF HUMAN GENETICS
; FEB 2006, 78 2, p179-p192, 14p.
Full Text (ScienceDirect)
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7 . Academic Journal
Cystic fibrosis : Chemical drugs to cure genetic diseases
저자
by
Lallemand, JY
;
Leclaire, B
;
Sermet, I
;
Lenoir, G
.
소스
BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
; MAY 2005, 189 5, p789-p795, 7p.
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6 . Academic Journal
Follow-up of 452 totally implantable vascular devices in cystic fibrosis patients
저자
by
Munck, A
;
Malbezin, S
;
Bloch, J
;
Gerardin, M
;
Lebourgeois, M
, et al.
소스
EUROPEAN RESPIRATORY JOURNAL
; MAR 2004, 23 3, p430-p434, 5p.
Scopus
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7 . Academic Journal
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome
저자
by
Faivre, L
;
Prieur, AM
;
Le Merrer, M
;
Hayem, F
;
Penet, C
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS
; NOV 27 2000, 95 3, p233-p236, 4p.
Scopus
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7 . Academic Journal
PREDICTIVE BIOMARKERS FOR LUMACAFTOR/IVACAFTOR CLINICAL RESPONSE
저자
by
Masson, A.
;
Pranke, I
;
Schneider, E.
;
Hatton, A.
;
Nguyen-Khoa, T.
, et al.
소스
PEDIATRIC PULMONOLOGY
; SEP 2018, 53 p251-p251, 1p. Supplement: 2
Scopus
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7 . Academic Journal
CHARACTERIZATION OF F508DEL CONTAINING COMPLEX ALLELES IN THE CONTEXT OF COMBINED CORRECTOR / ACTIVATOR THERAPY
저자
by
Baatallah, N.
;
Bitam, S.
;
Martin, N.
;
Servel, N.
;
Mekki, C.
, et al.
소스
PEDIATRIC PULMONOLOGY
; SEP 2018, 53 p167-p167, 1p. Supplement: 2
Scopus
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