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Fabre, Alexandre
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1

Systematic review of phenotypes and genotypes of patients w..:

Busolin, Amelie ; Vely, Frederic ; Eymard-Duvernay, Gilles..
Intractable & Rare Diseases Research.  13 (2024)  2 - p. 89-98 , 2024
Link: https://doi.org/10.5582/..
 
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2

Individual and Family Determinants for Quality of Life in P..:

Ouattara, Abdoulaye ; Resseguier, Noemie ; Cano, Aline...
The Journal of Pediatrics.  254 (2023)  - p. 39-47.e4 , 2023
Link: https://doi.org/10.1016/..
 
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3

Goldilocks principle and recessive disease:

Fabre, Alexandre ; Guerry, Paul
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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4

Oral findings in children with congenital cholestatic disea..:

Reynal, Florence ; Camoin, Ariane ; Tardieu, Corinne..
Archives de Pédiatrie.  30 (2023)  6 - p. 427-437 , 2023
Link: https://doi.org/10.1016/..
 
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5

Retraction Note: Increased Gut Redox and Depletion of Anaer..:

Million, Matthieu ; Alou, Maryam Tidjani ; Khelaifia, Saber...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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6

Proposed mechanism for the selection of lactase persistence..:

Fabre, Alexandre ; Fabre, Anne ; Bon, Céline..
BioEssays.  45 (2023)  7 - p. , 2023
Link: https://doi.org/10.1002/..
 
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7

When LUCA met gnomAD: genetic constraints on universal gene..:

Fabre, Alexandre ; Mancini, Julien
Intractable & Rare Diseases Research.  11 (2022)  3 - p. 149-152 , 2022
Link: https://doi.org/10.5582/..
 
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8

Smooth muscle motility disorder phenotypes: A systematic re..:

Fournier, Ninon ; Fabre, Alexandre
Intractable & Rare Diseases Research.  11 (2022)  3 - p. 113-119 , 2022
Link: https://doi.org/10.5582/..
 
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9

Molecular and clinical descriptions of patients with GABAA ..:

Maillard, Pierre‐Yves ; Baer, Sarah ; Schaefer, Élise...
Epilepsia.  63 (2022)  10 - p. 2519-2533 , 2022
Link: https://doi.org/10.1111/..
 
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10

No preferential mode of inheritance for highly constrained ..:

Fabre, Alexandre ; Mancini, Julien
Intractable & Rare Diseases Research.  11 (2022)  1 - p. 25-28 , 2022
Link: https://doi.org/10.5582/..
 
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11

Determinants of Quality of Life in Children with Inborn Err..:

Ouattara, Abdoulaye ; Resseguier, Noemie ; Cano, Aline...
The Journal of Pediatrics.  242 (2022)  - p. 192-200.e3 , 2022
Link: https://doi.org/10.1016/..
 
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12

Comparison of Endoscopic Dilatation and Heller's Myotomy fo..:

Nicolas, Audrey ; Aumar, Madeleine ; Tran, Léa Chantal...
The Journal of Pediatrics.  251 (2022)  - p. 134-139.e2 , 2022
Link: https://doi.org/10.1016/..
 
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13

Corrigendum to "ATP7B variant spectrum in a French pediatri..:

Couchonnal, Eduardo ; Bouchard, Sophie ; Sandahl, Thomas Damgaard...
European Journal of Medical Genetics.  65 (2022)  3 - p. 104453 , 2022
Link: https://doi.org/10.1016/..
 
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14

Targeted-Capture Next-Generation Sequencing in Diagnosis Ap..:

Almes, Marion ; Spraul, Anne ; Ruiz, Mathias...
Diagnostics.  12 (2022)  5 - p. 1169 , 2022
Link: https://doi.org/10.3390/..
 
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15

Corrigendum to "ATP7B variant spectrum in a French pediatri..:

Couchonnal, Eduardo ; Bouchard, Sophie ; Sandahl, Thomas Damgaard...
European Journal of Medical Genetics.  64 (2021)  11 - p. 104341 , 2021
Link: https://doi.org/10.1016/..
 
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