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Trimouille, A
198  results:
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1

Des variants hot-spot hétérozygotes de SREBF1 responsables ..:

Morice-Picard, F. ; Labreze, C. ; Michaud, V....
Annales de Dermatologie et de Vénéréologie.  147 (2020)  12 - p. A154 , 2020
Link: https://doi.org/10.1016/..
 
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2

Severe Thoracic and Spinal Bone Abnormalities in neurofibro..:

Prudhomme, L. ; Delleci, C. ; Trimouille, A....
European Journal of Medical Genetics.  63 (2020)  4 - p. 103815 , 2020
Link: https://doi.org/10.1016/..
 
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3

Syndrome de Wells et cutis laxa acquise : une association a..:

Bouquerel, M.M. ; Dequidt, L. ; Jullie, M.-L....
Annales de Dermatologie et de Vénéréologie.  147 (2020)  12 - p. A235-A236 , 2020
Link: https://doi.org/10.1016/..
 
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4

IL11RA‐related Crouzon‐like autosomal recessive craniosynos..:

Brischoux‐Boucher, E. ; Trimouille, A. ; Baujat, G....
Clinical Genetics.  94 (2018)  3-4 - p. 373-380 , 2018
Link: https://doi.org/10.1111/..
 
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5

Deletion of the transcription factor SOX4 is implicated in ..:

Trimouille, A. ; Barouk‐Simonet, E. ; Charron, S....
Clinical Genetics.  92 (2017)  4 - p. 449-450 , 2017
Link: https://doi.org/10.1111/..
 
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6

Further delineation of the phenotype caused by biallelic va..:

Trimouille, A. ; Lasseaux, E. ; Barat, P....
Clinical Genetics.  93 (2017)  2 - p. 374-377 , 2017
Link: https://doi.org/10.1111/..
 
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7

Étude d'une grande cohorte de patients atteints d'albinisme..:

Lasseaux, E. ; Morice-Picard, F. ; Plaisant, C....
Annales de Dermatologie et de Vénéréologie.  142 (2015)  12 - p. S589 , 2015
Link: https://doi.org/10.1016/..
 
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8

Pharmacogénétique de l'ototoxicité des aminosides : état de..:

Lebreton, Louis ; Hennart, Benjamin ; Baklouti, Sarah...
Therapies.  , 2024
Link: https://doi.org/10.1016/..
 
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9

Mutation on MT-CO2 gene induces mitochondrial disease assoc..:

Courtois, Sarah ; Angelini, Chloé ; M. Durand, Christelle...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1870 (2024)  1 - p. 166856 , 2024
Link: https://doi.org/10.1016/..
 
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10

Primary mitochondrial disorders and mimics: Insights from a..:

Rouzier, Cécile ; Pion, Emmanuelle ; Chaussenot, Annabelle...
Annals of Clinical and Translational Neurology.  11 (2024)  6 - p. 1478-1491 , 2024
Link: https://doi.org/10.1002/..
 
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11

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
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12

Intégration des données histo-pathologiques, biochimiques e..:

Trimouille, Aurélien ; Courtois, Sarah ; Angelini, Chloé...
Morphologie.  107 (2023)  359 - p. 100623 , 2023
Link: https://doi.org/10.1016/..
 
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13

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain.  147 (2023)  1 - p. 311-324 , 2023
Link: https://doi.org/10.1093/..
 
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14

Wells syndrome and acquired cutis laxa: An atypical associa..:

Bouquerel, Margot ; Dequidt, Laure ; Jullie, Marie‐Laure...
The Journal of Dermatology.  50 (2023)  11 - p. , 2023
Link: https://doi.org/10.1111/..
 
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15

Hemidystonia with polymicrogyria is part of ATP1A3-related ..:

Lacombe, Didier ; Van-Gils, Julien ; Lebrun, Marine...
Brain and Development.  44 (2022)  8 - p. 567-570 , 2022
Link: https://doi.org/10.1016/..
 
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