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1 . Academic Journal
WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient
저자
by
des Georges, Marie
;
Guittard, Caroline
;
Templin, Carine
;
Altiéri, Jean-Pierre
;
de Carvalho, Candice
, et al.
소스
In
The Journal of Molecular Diagnostics
2008 10(6):544-548
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Web of Science
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7 . Academic Journal
Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders
저자
by
Bareil, Corinne
;
Guittard, Caroline
;
Altieri, Jean-Pierre
;
Templin, Carine
;
Claustres, Mireille
, et al.
소스
In
The Journal of Molecular Diagnostics
2007 9(5):582-588
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7 . Academic Journal
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France
저자
by
des Georges, Marie
;
Guittard, Caroline
;
Altiéri, Jean-Pierre
;
Templin, Carine
;
Sarles, Jacques
, et al.
소스
In
Journal of Cystic Fibrosis
2004 3(4):265-272
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7 . Academic Journal
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
저자
by
Costa, Catherine
;
Pruliere-Escabasse, Virginie
;
de Becdelievre, Alix
;
Gameiro, Christine
;
Golmard, Lisa
, et al.
소스
In
Journal of Cystic Fibrosis
2011 10(6):479-482
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7 . Academic Journal
Leukemic non-nodal mantle cell lymphomas have a distinct phenotype and are associated with deletion of PARP1 and 13q14.
저자
by
Gallo, Mathieu
;
Cacheux, Valère
;
Vincent, Laure
;
Bret, Caroline
;
Tempier, Ariane
, et al.
소스
Virchows Archiv: European Journal of Pathology; Dec2016, Vol. 469 Issue 6, p697-706, 10p
Web of Science
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7 . Academic Journal
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in actor VII deficiency
저자
by
Ferraresi, Paolo
;
Balestra, Dario
;
Guittard, Caroline
;
Buthiau, Delphine
;
Pan-Petesh, Brigitte
, et al.
소스
HAEMATOLOGICA
; MAR 1 2020, 105 3, p829-p837, 9p.
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7 . Academic Journal
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens
저자
by
Lopez, Estelle
;
Viart, Victoria
;
Guittard, Caroline
;
Templin, Carine
;
René, Céline
, et al.
소스
Journal of Medical Genetics
. Mar 01, 2011 48(3):152-159
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7 . Academic Journal
Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene
저자
by
Taulan, Magali
;
Viart, Victoria
;
Theze, Corinne
;
Guittard, Caroline
;
Altieri, Jean-Pierre
, et al.
소스
Gene
. Jun2012, Vol. 500 Issue 2, p194-198. 5p.
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7 . Academic Journal
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
저자
by
René, Céline
;
Paulet, Damien
;
Girodon, Emmanuelle
;
Costa, Catherine
;
Lalau, Guy
, et al.
소스
European Journal of Human Genetics
. Jan2011, Vol. 19 Issue 1, p36-42. 7p. 1 Diagram, 4 Charts, 1 Graph.
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7 . Academic Journal
UMD-CFTR: A Database Dedicated to CF and CFTR-Related Disorders
저자
by
Bareil, Corinne
;
Thèze, Corinne
;
Béroud, Christophe
;
Hamroun, Dalil
;
Guittard, Caroline
, et al.
소스
Human Mutation
. Sep 01, 2010 31(9):1011-1019
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