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1.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain
; 143(4): 1114-1126, 2020 04 01.
Article
in English
| MEDLINE | ID: mdl-32293671
2.
Cannabidiol treatment of severe refractory epilepsy in children and young adults.
Dan Med J
; 68(5)2021 Apr 28.
Article
in English
| MEDLINE | ID: mdl-33913416
3.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Eur J Med Genet
; 64(9): 104280, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34229113
4.
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
Eur J Med Genet
; 57(6): 284-7, 2014.
Article
in English
| MEDLINE | ID: mdl-24727054
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