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1.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet
; 109(11): 2068-2079, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36283405
2.
CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model.
Hum Mol Genet
; 29(7): 1205-1217, 2020 05 08.
Article
in English
| MEDLINE | ID: mdl-32179897
3.
A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression.
J Dev Biol
; 9(3)2021 Jul 07.
Article
in English
| MEDLINE | ID: mdl-34287339
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