Hardies, Katia
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1

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1184-1205 , 2024
 
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4

Recessive mutations in SLC35A3 cause early onset epileptic ..:

Marini, Carla ; Hardies, Katia ; Pisano, Tiziana...
American Journal of Medical Genetics Part A.  173 (2017)  4 - p. 1119-1123 , 2017
 
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Bi-allelic GAD1 variants cause a neonatal onset syndromic d..:

Chatron, Nicolas ; Becker, Felicitas ; Morsy, Herba...
https://academic.oup.com/brain/article/doi/10.1093/brain/awaa085/5819590.  , 2020
 
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15

Biallelic VARS variants cause developmental encephalopathy ..:

Siekierska, Aleksandra ; Stamberger, Hannah ; Deconinck, Tine...
Siekierska , A , Stamberger , H , Deconinck , T , Oprescu , S N , Partoens , M , Zhang , Y , Sourbron , J , Adriaenssens , E , Mullen , P , Wiencek , P , Hardies , K , Lee , J S , Giong , H K , Distelmaier , F , Elpeleg , O , Helbig , K L , Hersh , J , Isikay , S , Jordan , E , Karaca , E , Kecskes , A , Lupski , J R , Kovacs-Nagy , R , May , P , Narayanan , V , Pendziwiat , M , Ramsey , K , Rangasamy , S , Shinde , D N , Spiegel , R , Timmerman , V , von Spiczak , S , Helbig , I , C4RCD Research Group , Møller , R S , Hjalgrim , H , AR working group of the EuroEPINOMICS RES Consortium , Weckhuysen , S , Francklyn , C , Antonellis , A , de Witte , P A M & De Jonghe , P 2019 , ' Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish ' , Nature Communications , vol. 10 , 708 . https://doi.org/10.1038/s41467-018-07953-w.  , 2019
 
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