Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Abbink, GEM"'
Publikováno v:
Min, R, Depienne, C, Sedel, F, Abbink, GEM & van der Knaap, MS 2021, CLCN2-Related Leukoencephalopathy . in GeneReviews .
GeneReviews
GeneReviews
Clinical characteristicsCLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic find
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::653050f60c253ebcca8db44c3ebdd15e
https://research.vu.nl/en/publications/ec3bd011-bb2a-4e03-8af6-d138e7a17fbd
https://research.vu.nl/en/publications/ec3bd011-bb2a-4e03-8af6-d138e7a17fbd
Publikováno v:
van der Knaap, MS, Abbink, GEM & Min, R 2018, Megalencephalic Leukoencephalopathy with Subcortical Cysts . in GeneReviews .
GeneReviews
GeneReviews
Clinical characteristicsThe classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::47a4283af0c00f4a7d4e51db5d6ed589
https://hdl.handle.net/1871.1/dbb245b0-fb3c-4214-92f4-9e2f30250171
https://hdl.handle.net/1871.1/dbb245b0-fb3c-4214-92f4-9e2f30250171
Autor:
Wisse, L.E.
Publikováno v:
Wisse, L E 2018, ' Towards the molecular mechanism of vanishing white matter ', PhD, Vrije Universiteit Amsterdam .
Wisse, L E 2018, ' Towards the molecular mechanism of vanishing white matter ', Doctor of Philosophy, Vrije Universiteit Amsterdam .
Wisse, L E 2018, ' Towards the molecular mechanism of vanishing white matter ', Doctor of Philosophy, Vrije Universiteit Amsterdam .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::36f5d431d2fb0da36b1a049d6135b70d
https://research.vu.nl/en/publications/bdb66401-ca80-49c9-85aa-5a1b57f69017
https://research.vu.nl/en/publications/bdb66401-ca80-49c9-85aa-5a1b57f69017