Mégarbané, André
352  results:
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1

Functional and clinical studies reveal pathophysiological c..:

Palmer, Elizabeth E ; Pusch, Michael ; Picollo, Alessandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01852-9.  , 2023
 
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2

Delineation of a KDM2B-related neurodevelopmental disorder ..:

van Jaarsveld, Richard H ; Reilly, Jack ; Cornips, Marie Claire...
https://research.rug.nl/en/publications/0fc76428-2e26-4b91-94b3-63a3514ac0d6.  , 2023
 
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4

Genetic predisposition to porto-sinusoidal vascular disorde..:

Shan, Jingxuan ; Megarbane, André ; Chouchane, Aziz...
https://research.rug.nl/en/publications/d09352ba-1531-43cd-a1a2-2ff122dd7dff.  , 2023
 
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6

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-Yi...
Guo , L , Salian , S , Xue , J-Y , Rath , N , Rousseau , J , Kim , H , Ehresmann , S , Moosa , S , Nakagawa , N , Kuroda , H , Clayton-Smith , J , Wang , J , Banka , S , Jackson , A , Wei , Z-J , Hüning , I , Brunet , T , Ohashi , H , Thomas , M F , Bupp , C , Miyake , N , Matsumoto , N , Mendoza-Londono , R , Costain , G , Hahn , G , Di Donato , N , Yigit , G , Yamada , T , Nishimura , G , Ansel , K M , Wollnik , B , Hrabě de Angelis , M , Mégarbané , A , Rosenfeld , J A , Heissmeyer , V , Ikegawa , S & Campeau , P M 2023 , ' Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans ' , American Journal of Human Genetics , vol. 110 , no. 7 , pp. 1068-1085 . https://doi.org/10.1016/j.ajhg.2023.06.001.  , 2023
 
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11

Genetic Testing to Inform Epilepsy Treatment Management Fro..:

McKnight, Dianalee ; Morales, Ana ; Hatchell, Kathryn E...
https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510.  , 2023
 
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