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MASSON, Emmanuelle
101
results:
Articles (Online) X
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Languages
english (93)
french (3)
Sorted by: Relevance
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?
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
Link:
https://doi.org/10.1186/..
?
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
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/..
?
4
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/..
?
5
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/..
?
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
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/..
?
9
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/..
?
10
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/..
?
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
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/..
?
13
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/..
?
14
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/..
?
15
Scale and Scope of Gene-Alcohol Interactions in Chronic Pan..:
Chen, Jian-Min
;
Herzig, Anthony
;
Génin, Emmanuelle
...
Genes. 12 (2021) 4 - p. 471 , 2021
Link:
https://doi.org/10.3390/..
1-15