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Charbit-Henrion, Fabienne
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1

Experience of dupilumab treatment in inherited epidermolysi..:

Bellon, Nathalia ; Bataille, Pauline ; Bonigen, Julie...
Journal of the American Academy of Dermatology.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Insights into the expanding intestinal phenotypic spectrum ..:

Rodari, Marco M. ; Cazals-Hatem, Dominique ; Uzzan, Mathieu...
Journal of Clinical Immunology.  43 (2023)  6 - p. 1403-1413 , 2023
Link: https://doi.org/10.1007/..
 
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3

Generation of induced pluripotent stem cells (iPSCs) from a..:

Banal, Celine ; Quelennec, Eddy ; Talbotec, Cécile...
Stem Cell Research.  68 (2023)  - p. 103057 , 2023
Link: https://doi.org/10.1016/..
 
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4

Severe tracheal involvement in type XVII collagen junctiona..:

Bozonnat, Alizée ; Polivka, Laura ; Leclerc-Mercier, Stéphanie...
British Journal of Dermatology.  188 (2023)  4 - p. 564-566 , 2023
Link: https://doi.org/10.1093/..
 
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5

Tubulin mutations in human neurodevelopmental disorders:

Maillard, Camille ; Roux, Charles Joris ; Charbit-Henrion, Fabienne...
Seminars in Cell & Developmental Biology.  137 (2023)  - p. 87-95 , 2023
Link: https://doi.org/10.1016/..
 
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6

Genetic Diagnosis Guides Treatment of Autoimmune Enteropath:

Charbit-Henrion, Fabienne ; Haas, Manon ; Chaussade, Stanislas...
Clinical Gastroenterology and Hepatology.  21 (2023)  5 - p. 1368-1371.e2 , 2023
Link: https://doi.org/10.1016/..
 
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7

Bothnian Palmoplantar Keratoderma: Further Delineation of t..:

Fertitta, Laura ; Charbit-Henrion, Fabienne ; Leclerc-Mercier, Stéphanie...
Genes.  13 (2022)  12 - p. 2360 , 2022
Link: https://doi.org/10.3390/..
 
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8

Congenital enteropathies involving defects in enterocyte st..:

Goulet, Olivier ; Pigneur, Bénédicte ; Charbit-Henrion, Fabienne
Best Practice & Research Clinical Gastroenterology.  56-57 (2022)  - p. 101784 , 2022
Link: https://doi.org/10.1016/..
 
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9

Crohn-like Disease Affecting Small Bowel Due to Monogenic S..:

Hamon, Annick ; Cazals-Hatem, Dominique ; Stefanescu, Carmen...
Journal of Crohn's and Colitis.  17 (2022)  5 - p. 816-820 , 2022
Link: https://doi.org/10.1093/..
 
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10

UNC45A deficiency causes microvillus inclusion disease–like..:

Duclaux-Loras, Rémi ; Lebreton, Corinne ; Berthelet, Jérémy...
Journal of Clinical Investigation.  132 (2022)  10 - p. , 2022
Link: https://doi.org/10.1172/..
 
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11

A novel mutation of PCSK1 responsible for PC1/3 deficiency ..:

Duclaux-Loras, Rémi ; Bourgeois, Patrice ; Lavrut, Pierre-Marie...
Clinics and Research in Hepatology and Gastroenterology.  45 (2021)  6 - p. 101640 , 2021
Link: https://doi.org/10.1016/..
 
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12

Intestinal immunoregulation: lessons from human mendelian d..:

Charbit-Henrion, Fabienne ; Parlato, Marianna ; Malamut, Georgia..
Mucosal Immunology.  14 (2021)  5 - p. 1017-1037 , 2021
Link: https://doi.org/10.1038/..
 
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13

Duplication of the IL2RA locus causes excessive IL-2 signal..:

Joosse, Maria E. ; Charbit-Henrion, Fabienne ; Boisgard, Remy...
Mucosal Immunology.  14 (2021)  5 - p. 1172-1182 , 2021
Link: https://doi.org/10.1038/..
 
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14

Bi-allelic variants in IPO8 cause a connective tissue disor..:

Ziegler, Alban ; Duclaux-Loras, Rémi ; Revenu, Céline...
The American Journal of Human Genetics.  108 (2021)  6 - p. 1126-1137 , 2021
Link: https://doi.org/10.1016/..
 
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15

Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-..:

Bader-Meunier, Brigitte ; Martins, Andreia Luís ; Charbit-Henrion, Fabienne...
Inflammatory Bowel Diseases.  27 (2021)  11 - p. 1853-1857 , 2021
Link: https://doi.org/10.1093/..
 
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