E-LIB Suche - Ergebnisse für: Pagin, Adrien

1

AQP5, a second gene at play with CFTR in aquagenic palmopla..:

Sperelakis‐Beedham, Brian ; Lopez, Maureen ; Bourrat, Emmanuelle...
Journal of the European Academy of Dermatology and Venereology. 37 (2023) 5 - p. , 2023

Link: https://doi.org/10.1111/..

2

WITHDRAWN: Clinical interpretation of PRSS1 gene variants i..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
Clinics and Research in Hepatology and Gastroenterology. 46 (2022) 8 - p. 101531 , 2022

Link: https://doi.org/10.1016/..

3

Clinical interpretation of PRSS1 variants in patients with ..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
Clinics and Research in Hepatology and Gastroenterology. 45 (2021) 1 - p. 101497 , 2021

Link: https://doi.org/10.1016/..

4

Clinical interpretation of SPINK1 and CTRC variants in panc..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
Pancreatology. 20 (2020) 7 - p. 1354-1367 , 2020

Link: https://doi.org/10.1016/..

5

Novel ADGRG2 truncating variants in patients with X‐linked ..:

Pagin, Adrien ; Bergougnoux, Anne ; Girodon, Emmanuelle...
Andrology. 8 (2019) 3 - p. 618-624 , 2019

Link: https://doi.org/10.1111/..

6

Applicability and Efficiency of NGS in Routine Diagnosis: I..:

Pagin, Adrien ; Devos, Aurore ; Figeac, Martin...
PLOS ONE. 11 (2016) 2 - p. e0149426 , 2016

Link: https://doi.org/10.1371/..

7

Functional characterization and phenotypic spectrum of thre..:

Bergougnoux, Anne ; Deletang, K ; Pommier, A...
10.1016/j.jcf.2018.10.012. , 2024

Link: https://hdl.handle.net/2..

8

The multi-faceted nature of 15 CFTR exonic variations: Impa..:

Bergougnoux, A ; Billet, A ; Ka, C...
10.1016/j.jcf.2022.12.003. , 2024

Link: https://hdl.handle.net/2..

9

AQP5, a second gene at play with CFTR in aquagenic palmopla..:

Sperelakis‐Beedham, Brian ; Lopez, Maureen ; Gaitch, Natacha...
10.1111/jdv.18869. , 2024

Link: https://hdl.handle.net/2..

10

Clinical interpretation of prss1 gene variants in patients ..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
10.1016/j.clinre.2020.07.004. , 2022

Link: https://hdl.handle.net/2..

11

Novel adgrg2 truncating variants in patients with x-linked ..:

Pagin, Adrien ; Bergougnoux, Anne ; Girodon, Emmanuelle...
10.1111/andr.12744. , 2022

Link: https://hdl.handle.net/2..

12

Clinical interpretation of PRSS1 variants in patients with ..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clinre.2020.07.004. , 2021

Link: https://hal.science/hal-..

13

Clinical interpretation of PRSS1 variants in patients with ..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clinre.2020.07.004. , 2021

Link: https://hal.science/hal-..

14

Clinical interpretation of PRSS1 variants in patients with ..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clinre.2020.07.004. , 2021

Link: https://hal.science/hal-..

15

Clinical interpretation of PRSS1 variants in patients with ..:

Girodon, Emmanuelle ; Rebours, Vinciane ; Chen, Jian Min...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clinre.2020.07.004. , 2021

Link: https://hal.science/hal-..