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Judith Halewa
Judith Halewa
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Year
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
M Jeanne, H Demory, A Moutal, ML Vuillaume, S Blesson, RA Thépault, ...
The American Journal of Human Genetics 108 (5), 951-961, 2021
272021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
J Halewa, S Marouillat, M Dixneuf, RA Thépault, DC Ung, N Chatron, ...
Human Mutation 42 (7), 848-861, 2021
82021
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Articles 1–2