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Author/Creator Billiemaz, Kareen

1. AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case. Issue 6 (9th July 2020)

Authors:
Ramond, Francis; Rio, Marlène; Héron, Bénédicte; Imbard, Apolline; Marie, Sandrine; Billiemaz, Kareen; Denommé‐Pichon, Anne‐Sophie; Kuentz, Paul; Ceballos, Irène; Piraud, Monique; Vincent, Marie‐Françoise; Touraine, Renaud
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1254
Record Type:
Journal Article
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2. Clinical Remission and Psychological Management are Major Issues for the Quality of Life in Pediatric Crohn Disease. Issue 1 (January 2021)

Authors:
Gourdonneau, Anne; Bruneau, Léa; Ruemmele, Frank M.; Norsa, Lorenzo; Takeda, Armelle; Le Gall, Catherine; Clouzeau, Haude; Rebouissoux, Laurent; Dabadie, Alain; Bridoux-Henno, Laure; Rebeuh, Julie; Thomassin, Nadège; Viala, Jérôme; Willot, Stéphanie; Breton, Anne; Coopman, Stéphanie; Spyckerelle,...
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 72:Issue 1(2021)
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Record Type:
Journal Article
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3. Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis. Issue 2 (28th December 2021)

Authors:
Hamada, Shin; Masson, Emmanuelle; Chen, Jian‐Min; Sakaguchi, Reiko; Rebours, Vinciane; Buscail, Louis; Matsumoto, Ryotaro; Tanaka, Yu; Kikuta, Kazuhiro; Kataoka, Fumiya; Sasaki, Akira; Le Rhun, Marc; Audin, Hela; Lachaux, Alain; Caumont, Bernard; Lorenzo, Diane; Billiemaz, Kareen; Besnard, Raphae...
Journal:
Human mutation
Issue:
Volume 43:Issue 2(2022)
Page Start:
228
Record Type:
Journal Article
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4. Increased Risk of Serious Bacterial Infections Due to Maternal Immunosuppression in HIV-Exposed Uninfected Infants in a European Country. (22nd July 2014)

Authors:
Taron-Brocard, Clement; Le Chenadec, Jerome; Faye, Albert; Dollfus, Catherine; Goetghebuer, Tessa; Gajdos, Vincent; Labaune, Jean-Marc; Perilhou, Anais; Mandelbrot, Laurent; Blanche, Stephane; Warszawski, Josiane; Mandelbrot, Laurent; Crenn-Hebert, Catherine; Floch-Tudal, Corinne; Mazy, Fabienne;...
Journal:
Clinical infectious diseases
Issue:
Volume 59:Number 9(2014:May 01)
Page Start:
1332
Record Type:
Journal Article
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5. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. Issue 12 (12th October 2017)

Authors:
Venet, Théa; Masson, Emmanuelle; Talbotec, Cécile; Billiemaz, Kareen; Touraine, Renaud; Gay, Claire; Destombe, Sylvie; Cooper, David N.; Patural, Hugues; Chen, Jian‐Min; Férec, Claude
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1660
Record Type:
Journal Article
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