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Rötig, Agnès
283
results:
Search for persons
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Online (283)
Mediatypes
Articles (Online) (134)
OpenAccess-fulltext (149)
Languages
english (269)
french (1)
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1
Recurrent "outsider" intronic variation in the SLC5A6 gene ..:
Mansour-Hendili, Lamisse
;
Gitiaux, Cyril
;
Harion, Madeleine
...
Frontiers in Genetics. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
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2
Systematic analysis of NDUFAF6 in complex I assembly and mi..:
Sung, Andrew Y.
;
Guerra, Rachel M.
;
Steenberge, Laura H.
...
Nature Metabolism. 6 (2024) 6 - p. 1128-1142 , 2024
Link:
https://doi.org/10.1038/..
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3
Polyradiculoneuritis on MRI: An Overlooked Feature of Biall..:
Roux, Charles-Joris
;
Dufeu-Berat, Claire-Marine
;
Hully, Marie
...
Neurology. 102 (2024) 11 - p. , 2024
Link:
https://doi.org/10.1212/..
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4
A shared pattern of altered gene expression in human embryo..:
Chatzovoulou, Kalliopi
;
Mayeur, Anne
;
Cagnard, Nicolas
...
Human Reproduction. , 2023
Link:
https://doi.org/10.1093/..
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5
Novel ELAC2 Mutations in Individuals Presenting with Variab..:
Cafournet, Cérane
;
Zanin, Sofia
;
Guimier, Anne
...
Life. 13 (2023) 2 - p. 445 , 2023
Link:
https://doi.org/10.3390/..
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6
258th ENMC international workshop Leigh syndrome spectrum: ..:
Diodato, Daria
;
Schiff, Manuel
;
Cohen, Bruce H.
...
Neuromuscular Disorders. 33 (2023) 8 - p. 700-709 , 2023
Link:
https://doi.org/10.1016/..
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7
Successful treatment of severe MSUD in Bckdhb−/− mice with ..:
Pontoizeau, Clément
;
Gaborit, Clovis
;
Tual, Nolan
...
Journal of Inherited Metabolic Disease. 47 (2023) 1 - p. 41-49 , 2023
Link:
https://doi.org/10.1002/..
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8
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Ty..:
Barbier, Mathieu
;
Bahlo, Melanie
;
Pennisi, Alessandra
...
Annals of Neurology. 92 (2022) 1 - p. 122-137 , 2022
Link:
https://doi.org/10.1002/..
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9
Neuropathological hallmarks of antenatal mitochondrial dise..:
Boutaud, Lucile
;
Ruzzenente, Benedetta
;
Tessier, Aude
...
Brain. 146 (2022) 5 - p. 1804-1811 , 2022
Link:
https://doi.org/10.1093/..
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10
Neonatal gene therapy achieves sustained disease rescue of ..:
Pontoizeau, Clément
;
Simon-Sola, Marcelo
;
Gaborit, Clovis
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
11
Biallelic variants in TAMM41 are associated with low muscle..:
Thompson, Kyle
;
Bianchi, Lucas
;
Rastelli, Francesca
...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100097 , 2022
Link:
https://doi.org/10.1016/..
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12
A retrospective study on the efficacy of prenatal diagnosis..:
Steffann, Julie
;
Monnot, Sophie
;
Magen, Maryse
...
Genetics in Medicine. 23 (2021) 4 - p. 720-731 , 2021
Link:
https://doi.org/10.1038/..
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13
Variants in the MIPEP gene presenting with complex neurolog..:
Pulman, Juliette
;
Ruzzenente, Benedetta
;
Horak, Martin
...
Molecular Genetics and Metabolism. 134 (2021) 3 - p. 267-273 , 2021
Link:
https://doi.org/10.1016/..
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14
Emm : un nouveau système de groupe sanguin associé à des tr..:
Duval, Romain
;
Nicolas, Gael
;
Willemetz, Alexandra
...
Transfusion Clinique et Biologique. 28 (2021) 4 - p. S30 , 2021
Link:
https://doi.org/10.1016/..
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15
Biallelic mutations in the SARS2 gene presenting as congeni..:
Colin, Elia
;
Courtois, Geneviève
;
Brouzes, Chantal
...
Haematologica. 106 (2021) 12 - p. 3202-3205 , 2021
Link:
https://doi.org/10.3324/..
1-15