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1.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Article
in English
| MEDLINE | ID: mdl-31587868
2.
Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.
J Clin Med
; 10(17)2021 Aug 31.
Article
in English
| MEDLINE | ID: mdl-34501382
3.
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
Parkinsonism Relat Disord
; 77: 87-88, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32653842
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