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1 . Academic Journal
Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
저자
by
Lacombe, Didier
;
Calmels, Nadège
;
Andre, Carole
;
Reboul, Marie-Pierre
;
Biancalana, Valérie
, et al.
소스
In
Bulletin de l'Académie Nationale de Médecine
January 2024 208(1):86-94
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7 . Academic Journal
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
저자
by
Sperelakis‐Beedham, Brian
;
Lopez, Maureen
;
Bourrat, Emmanuelle
;
Gaitch, Natacha
;
Houriez, Florence
, et al.
소스
Journal of the European Academy of Dermatology & Venereology
. May2023, Vol. 37 Issue 5, pe654-e657. 4p.
Full Text (Wiley)
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7 . Academic Journal
Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations
저자
by
El-Seedy, Ayman
;
Dudognon, Tony
;
Bilan, Frédéric
;
Pasquet, Marie-Claude
;
Reboul, Marie-Pierre
, et al.
소스
In
The Journal of Molecular Diagnostics
2009 11(5):488-493
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7 . Academic Journal
Rapid and accurate detection of the CFTR gene mutation 1811+1.6kbA>G by real-time fluorescence resonance energy transfer PCR
저자
by
Reboul, Marie-Pierre
;
Higueret, Laurent
;
Biteau, Nicolas
;
Iron, Albert
.
소스
In
Molecular and Cellular Probes
2005 19(5):358-362
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6 . Academic Journal
Novel ADGRG2 truncating variants in patients with X‐linked congenital absence of vas deferens.
저자
by
Pagin, Adrien
;
Bergougnoux, Anne
;
Girodon, Emmanuelle
;
Reboul, Marie‐Pierre
;
Willoquaux, Christelle
, et al.
소스
Andrology
. May2020, Vol. 8 Issue 3, p618-624. 7p.
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7 . Academic Journal
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
저자
by
Claustres, Mireille
;
Thèze, Corinne
;
des Georges, Marie
;
Baux, David
;
Girodon, Emmanuelle
, et al.
소스
Human Mutation; Oct2017, Vol. 38 Issue 10, p1297-1315, 19p
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7 . Academic Journal
The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.
저자
by
Hinzpeter, Alexandre
;
Reboul, Marie‐Pierre
;
Callebaut, Isabelle
;
Zordan, Cécile
;
Costes, Bruno
, et al.
소스
Clinical Case Reports
. May2017, Vol. 5 Issue 5, p658-663. 6p.
Open Access (Wiley)
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7 . Periodical
Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
저자
by
Lacombe, Didier
;
Calmels, Nadège
;
Andre, Carole
;
Reboul, Marie-Pierre
;
Biancalana, Valérie
, et al.
소스
Bulletin de l'Académie Nationale de Médecine; 20230101, Issue: Preprints
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
Diagnosis accuracy of a new challenger for thrombosis exclusion, the Stratus® CS DDMR
저자
by
Freyburger, Geneviève
;
Reboul, Marie-Pierre
;
Labrouche, Sylvie
;
Saillour, Florence
;
Grenier, Nicolas
.
소스
Clinica Chimica Acta
. Apr2005, Vol. 354 Issue 1/2, p181-189. 9p.
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7 . Periodical
Influence of the Duplication of CFTRExon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations
저자
by
El-Seedy, Ayman
;
Dudognon, Tony
;
Bilan, Frédéric
;
Pasquet, Marie-Claude
;
Reboul, Marie-Pierre
, et al.
소스
The Journal of Molecular Diagnostics; September 2009, Vol. 11 Issue: 5 p488-493, 6p
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