Mazel, Benoit
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1

FOXG1 variants can be associated with milder phenotypes tha..:

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  , 2024
 
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6

ADGRL1 haploinsufficiency causes a variable spectrum of neu..:

Vitobello, Antonio ; Mazel, Benoit ; Lelianova, Vera G....
The American Journal of Human Genetics.  109 (2022)  8 - p. 1436-1457 , 2022
 
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8

Epileptic encephalopathy as a new feature of the sudden inf..:

Mazel, Benoit ; Mallet, Delphine ; Roucher‐Boulez, Florence...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3540-3545 , 2022
 
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9

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing h..:

Marsili, Luisa ; van Lint, Freyja H.M ; Russo, Francesco...
https://research.rug.nl/en/publications/2958232b-41fc-48c6-8b9a-0a3bab3e973a.  , 2023
 
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13

Mutation-specific pathophysiological mechanisms define diff..:

den Hoed, Joery ; de Boer, Elke ; Voisin, N...
den Hoed , J , de Boer , E , Voisin , N , Dingemans , A , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S , Banka , S , Bena , F , Ben-Zeev , B , Bonagura , V , Bruel , A , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistienė , L , Coon , H , study , T DDD , Délot , E C , Démurger , F , Denommé-Pichon , A-S , Depienne , C , Donnai , D , Dyment , D A , Elpeleg , O , Faivre , L , Gilissen , C , Granger , L , Haber , B , Hachiya , Y , Abedi , Y H , Hanebeck , J , Hehir-Kwa , J Y , Horist , B , Itai , T , Jackson , A , Jewell , R , Jones , K L , Joss , S , Kashii , H , Kato , M , Kattentidt-Mouravieva , A A , Kok , F , Kotzaeridou , U , Krishnamurthy , V , Kučinskas , V , Kuechler , A , Lavillaureix , A , Liu , P , Manwaring , L , Matsumoto , N , Mazel , B , McWalter , K , Meiner , V , Mikati , M A , Miyatake , S , Mizuguchi , T , Moey , L H , Mohammed , S , Mor-Shaked , H , Mountford , H , Newbury-Ecob , R , Odent , S , Orec , L ,....  , 2020
 
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15

Comparing failure tests on pharmaceutical tablets: Interpre..:

Mazel, Vincent ; Girardot, Jérémie ; Kopp, Jean-Benoit..
International Journal of Pharmaceutics.  642 (2023)  - p. 123166 , 2023
 
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