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Faoucher, M.
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1

Une nouvelle étiologie complexe d'insuffisance surrénale : ..:

Lefèvre, C. ; Lavillaureix, A. ; Faoucher, M....
Annales d'Endocrinologie.  83 (2022)  5 - p. 342-343 , 2022
Link: https://doi.org/10.1016/..
 
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2

Three new cases of asparagine synthetase deficiency: Confir..:

Faoucher, M. ; Putoux, A. ; Francannet, C....
European Journal of Paediatric Neurology.  21 (2017)  - p. e63 , 2017
Link: https://doi.org/10.1016/..
 
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3

DISP1 deficiency: Monoallelic and biallelic variants cause ..:

Lavillaureix, Alinoë ; Rollier, Paul ; Kim, Artem...
Genetics in Medicine.  26 (2024)  7 - p. 101126 , 2024
Link: https://doi.org/10.1016/..
 
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4

LHX2 haploinsufficiency causes a variable neurodevelopmenta..:

Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory...
Genetics in Medicine.  25 (2023)  7 - p. 100839 , 2023
Link: https://doi.org/10.1016/..
 
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5

Recyclable Molecular Trapping and SERS Detection in Silver-..:

Aldeanueva-Potel, Paula ; Faoucher, Erwan ; Alvarez-Puebla, Ramón A...
Analytical Chemistry.  81 (2009)  22 - p. 9233-9238 , 2009
Link: https://doi.org/10.1021/..
 
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6

Deleterious, protein-altering variants in the transcription..:

Hiatt, Susan M ; Trajkova, Slavica ; Sebastiano, Matteo Rossi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943726/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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7

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Dis..:

Barish, Scott ; Barakat, Tahsin Stefan ; Michel, Brittany C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820627/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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