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1 . Academic Journal
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
저자
by
Abbott, Jordan K.
;
Aldave Becerra, Juan Carlos
;
Allenspach, Eric J.
;
Assing, Kristian
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Atkinson, T. Prescott
, et al.
소스
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The Journal of Allergy and Clinical Immunology
January 2024 153(1):230-242
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7 . Academic Journal
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy
저자
by
Gonzales, Emmanuel
;
Gardin, Antoine
;
Almes, Marion
;
Darmellah-Remil, Amaria
;
Seguin, Hanh
, et al.
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JHEP Reports
October 2023 5(10)
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7 . Academic Journal
Long-term outcomes of patients with type 1 or 2 autoimmune hepatitis presenting in childhood
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by
Maggiore, Giuseppe
;
Bernard, Olivier
;
Mosca, Antonella
;
Ballot, Eric
;
Johanet, Catherine
, et al.
소스
In
Journal of Hepatology
May 2023 78(5):979-988
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
저자
by
Felzen, Antonia
;
van Wessel, Daan B.E.
;
Gonzales, Emmanuel
;
Thompson, Richard J.
;
Jankowska, Irena
, et al.
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JHEP Reports
February 2023 5(2)
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7 . Academic Journal
Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study
저자
by
Gonzales, Emmanuel
;
Hardikar, Winita
;
Stormon, Michael
;
Baker, Alastair
;
Hierro, Loreto
, et al.
소스
In
The Lancet
30 October-5 November 2021 398(10311):1581-1592
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7 . Academic Journal
Long term results of liver transplantation for alpha-1 antitrypsin deficiency
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by
Guillaud, Olivier
;
Jacquemin, Emmanuel
;
Couchonnal, Eduardo
;
Vanlemmens, Claire
;
Francoz, Claire
, et al.
소스
In
Digestive and Liver Disease
May 2021 53(5):606-611
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7 . Academic Journal
THU-291 - Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group
저자
by
Murillo Perez, Carla Fiorella
;
Vandriel, Shannon M.
;
Wang, Jian-She
;
Liting, Li
;
She, Huiyu
, et al.
소스
In
Journal of Hepatology
June 2023 78 Supplement 1:S971-S973
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7 . Academic Journal
Seronegative autoimmune hepatitis in children: Spectrum of disorders
저자
by
Maggiore, Giuseppe
;
Socie, Gérard
;
Sciveres, Marco
;
Roque-Afonso, Anne-Marie
;
Nastasio, Silvia
, et al.
소스
In
Digestive and Liver Disease
July 2016 48(7):785-791
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7 . Academic Journal
Long-term outcome of combined radiologic and surgical strategy for the management of biliary complications after pediatric liver transplantation.
저자
by
Calinescu, Ana M.
;
Monluc, Sébastien
;
Franchi-Abella, Stephanie
;
Habes, Dalila
;
Weber, Gabrielle
, et al.
소스
BMC Research Notes
. 3/20/2024, Vol. 17 Issue 1, p1-7. 7p.
Open Access (BioMed Central)
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