E-LIB Suche - Ergebnisse für: MASSON, Emmanuelle

1

Combining full-length gene assay and SpliceAI to interpret ..:

Wu, Hao ; Lin, Jin-Huan ; Tang, Xin-Ying...
Human Genomics. 18 (2024) 1 - p. , 2024

2

Diagnostic yield of repeat genetic testing in idiopathic ch..:

Dermine, Solène ; Masson, Emmanuelle ; Girodon-Boulandet, Emmanuelle...
Clinics and Research in Hepatology and Gastroenterology. 48 (2024) 6 - p. 102346 , 2024

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

3

Identification of protease-sensitive but not misfolding PNL..:

Masson, Emmanuelle ; Berthet, Stéphanie ; Le Gac, Gerald...
Pancreatology. 23 (2023) 5 - p. 507-511 , 2023

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

4

Classification of PRSS1 variants responsible for chronic pa..:

Masson, Emmanuelle ; Zou, Wen-Bin ; Pu, Na...
Pancreatology. 23 (2023) 5 - p. 491-506 , 2023

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

5

Genetic and functional analysis of chymotrypsin-like protea..:

Eiseler, Katharina ; Neppl, Lea ; Schmidt, Andreas W....
Pancreatology. 23 (2023) - p. e64 , 2023

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

6

Frameshift coding sequence variants in the LPL gene: identi..:

Zhang, Guofu ; Hu, Yuepeng ; Yang, Qi...
Lipids in Health and Disease. 22 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

7

Genetic and functional analysis of chymotrypsin-like protea..:

Eiseler, Katharina ; Neppl, Lea ; Schmidt, Andreas W....
Pancreatology. 23 (2023) 8 - p. 957-963 , 2023

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

8

The PRSS3P2 and TRY7 deletion copy number variant modifies ..:

Masson, Emmanuelle ; Ewers, Maren ; Paliwal, Sumit...
Pancreatology. 23 (2023) 1 - p. 48-56 , 2023

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

9

CEL-HYB1 haplotypes confer varying risk for chronic pancrea..:

Berke, Gergő ; Sándor, Máté ; Ewers, Maren...
Pancreatology. 23 (2023) - p. e27-e28 , 2023

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

10

Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with p..:

Zou, Wen-Bin ; Cooper, David N. ; Masson, Emmanuelle...
Human Genetics. 141 (2022) 8 - p. 1327-1338 , 2022

Link: https://doi.org/10.1007/..

11

Expanding ACMG variant classification guidelines into a gen..:

Masson, Emmanuelle ; Zou, Wen-Bin ; Génin, Emmanuelle...
Human Genomics. 16 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

12

Variants in the pancreatic CUB and zona pellucida-like doma..:

Rygiel, Agnieszka Magdalena ; Unger, Lara Sophie ; Sörgel, Franziska Lena...
Pancreatology. 22 (2022) 5 - p. 564-571 , 2022

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

13

Chronic Pancreatitis: The True Pathogenic Culprit within th..:

Pu, Na ; Masson, Emmanuelle ; Cooper, David N....
Genes. 12 (2021) 11 - p. 1683 , 2021

Link: https://doi.org/10.3390/..

14

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Gen..:

Lin, Jin-Huan ; Wu, Hao ; Zou, Wen-Bin...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

15

Functionally deficientTRPV6variants contribute to hereditar..:

Hamada, Shin ; Masson, Emmanuelle ; Chen, Jian‐Min...
Human Mutation. 43 (2021) 2 - p. 228-239 , 2021

Link: https://doi.org/10.1002/..