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1 . Academic Journal
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
저자
by
Abrantes, Amandine
;
Aguilera Munoz, Lina
;
Albouys, Jérémie
;
Alric, Laurent
;
Amiot, Xavier
, et al.
소스
In
Pancreatology
August 2023 23(5):491-506
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7 . Academic Journal
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
저자
by
Campion, Dominique
;
Dartigues, Jean-Francois
;
Deleuze, Jean-François
;
Genin, Emmanuelle
;
Lambert, Jean-Charles
, et al.
소스
In
The Lancet Rheumatology
February 2020 2(2):e99-e109
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7 . Academic Journal
Estimating the age of the founding French P.(Ser127Arg) mutation in PCSK9
저자
by
Varret, Mathilde
;
Azar, Yara
;
Ludwig, Thomas
;
Strøm, Thea
;
Bluteau, Olivier
, et al.
소스
In
Atherosclerosis
August 2024 395 Supplement 1
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7 . Academic Journal
Highlighting the impact of cascade carrier testing in cystic fibrosis families
저자
by
Duguépéroux, Ingrid
;
L'Hostis, Carine
;
Audrézet, Marie-Pierre
;
Rault, Gilles
;
Frachon, Irène
, et al.
소스
In
Journal of Cystic Fibrosis
July 2016 15(4):452-459
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7 . Academic Journal
Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases
저자
by
Uguen, Kevin
;
Michaud, Jacques L.
;
Génin, Emmanuelle
.
소스
European Journal of Human Genetics
. 32(9):1037-1044
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5 . Academic Journal
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis
저자
by
de Tayrac, Marie
;
Roth, Marie-Paule
;
Jouanolle, Anne-Marie
;
Coppin, Hélène
;
le Gac, Gérald
, et al.
소스
In
Journal of Hepatology
March 2015 62(3):664-672
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7 . Academic Journal
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
저자
by
Wu, Hao
;
Lin, Jin-Huan
;
Tang, Xin-Ying
;
Marenne, Gaëlle
;
Zou, Wen-Bin
, et al.
소스
Human Genomics; 2/27/2024, Vol. 18 Issue 1, p1-23, 23p
Open Access (BioMed Central)
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7 . Academic Journal
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
저자
by
Hannequin, Didier
;
Campion, Dominique
;
Wallon, David
;
Martinaud, Olivier
;
Zarea, Aline
, et al.
소스
In
Neurobiology of Aging
November 2017 59:220-220
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7 . Academic Journal
No replication of genetic association between candidate polymorphisms and Alzheimer's disease
저자
by
Cousin, Emmanuelle
;
Macé, Sandrine
;
Rocher, Corinne
;
Dib, Colette
;
Muzard, Gaëlle
, et al.
소스
In
Neurobiology of Aging
2011 32(8):1443-1451
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7 . Academic Journal
Human genetic structure in Northwest France provides new insights into West European historical demography
저자
by
Alves, Isabel
;
Giemza, Joanna
;
Blum, Michael G. B.
;
Bernhardsson, Carolina
;
Chatel, Stéphanie
, et al.
소스
Nature Communications
. 15(1)
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