Alexandre Fabre
Aix-Marseille Université
H-index: 27
Europe-France
Top articles of Alexandre Fabre
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study | The Lancet Haematology | Pauline Hägele Paulina Staus Raphael Scheible Annette Uhlmann Maximilian Heeg | 2024/2/1 |
Goldilocks principle and recessive disease | European Journal of Human Genetics | Alexandre Fabre Paul Guerry | 2024/2 |
Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1)(related to TTC7A) | Amelie Busolin Frederic Vely Gilles Eymard-Duvernay Vincent Barlogis Alexandre Fabre | 2024 | |
Monogenic early-onset lymphoproliferation and autoimmunity: natural history of STAT3 gain-of-function syndrome | Journal of Allergy and Clinical Immunology | Jennifer W Leiding Tiphanie P Vogel Valentine GJ Santarlas Rahul Mhaskar Madison R Smith | 2023/4/1 |
Retraction Note: Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute Malnutrition | Matthieu Million Maryam Tidjani Alou Saber Khelaifia Dipankar Bachar Jean-Christophe Lagier | 2023/10/30 | |
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach | The Journal of Pediatrics | Abdoulaye Ouattara Noemie Resseguier Aline Cano Pascale De Lonlay Jean-Baptiste Arnoux | 2023/3/1 |
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis | Pancreatology | Emmanuelle Masson Stéphanie Berthet Gerald Le Gac Marc Le Rhun Chandran Ka | 2023/8/1 |
Genotype-phenotype relationships of truncating mutations, p. E297G and p. D482G in bile salt export pump deficiency | JHEP Reports | Antonia Felzen Daan BE Van Wessel Emmanuel Gonzales Richard J Thompson Irena Jankowska | 2023/2/1 |
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group | Pancreatology | Emmanuelle Masson Wen-Bin Zou Na Pu Vinciane Rebours Emmanuelle Génin | 2023/8/1 |
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis | Pancreatology | Emmanuelle Masson Maren Ewers Sumit Paliwal Kiyoshi Kume Virginie Scotet | 2023/1/1 |
Proposed mechanism for the selection of lactase persistence in childhood | Alexandre Fabre Anne Fabre Céline Bon Paul Guerry Laure Segurel | 2023/7 | |
Oral findings in children with congenital cholestatic disease: A systematic review of case reports and case series | Florence Reynal Ariane Camoin Corinne Tardieu Alexandre Fabre Isabelle Blanchet | 2023/6/30 | |
A second case of multisystem inflammatory syndrome associated with SARS‐CoV‐2 in a liver‐transplanted child. | Pediatric Transplantation | Pauline Duvant Bertrand Roquelaure Aurélie Morand Emmanuelle Bosdure Florentine Garaix | 2022/2/1 |
Association of Hepatic and Renal Injury in a Retrospective Cohort of Hospitalized Adolescents with Anorexia | Coline Mejean Julie Berbis Cyprien Fabre Rachel Reynaud Sarah Castets | 2022/6/2 | |
Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD | Archives de pédiatrie | C De Leusse C Roman B Roquelaure Alexandre Fabre | 2022/11/1 |
Targeted-capture next-generation sequencing in diagnosis approach of pediatric cholestasis | Diagnostics | Marion Almes Anne Spraul Mathias Ruiz Muriel Girard Bertrand Roquelaure | 2022/5/7 |
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature … | Pierre‐yves Maillard Sarah Baer Élise Schaefer Béatrice Desnous Nathalie Villeneuve | 2022/10 | |
Corrigendum to" ATP7B variant spectrum in a French pediatric Wilson disease cohort"[Eur. J. Med. Genet. 64 (10)(October 2021) 104305] | European journal of medical genetics | Eduardo Couchonnal Sophie Bouchard Thomas Damgaard Sandahl Cecile Pagan Laurence Lion-François | 2022/3 |
Diagnostic d’une maladie inflammatoire rare et sévère de l’intestin chez un nourrisson présentant des ulcérations péri-orificielles | Annales de Pathologie | Alexandre Bardet Florence Riccardi Julia Torrents Françoise Capasso Marc-Antoine Devooght | 2022/10/1 |
Determinants of quality of life in children with inborn errors of metabolism receiving a restricted diet | The Journal of Pediatrics | Abdoulaye Ouattara Noemie Resseguier Aline Cano Pascale De Lonlay Jean-Baptiste Arnoux | 2022/3/1 |
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