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1.
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
BMC Genomics
; 16 Suppl 1: S12, 2015.
Article
in English
| MEDLINE | ID: mdl-25923536
2.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
medRxiv
; 2024 Jan 31.
Article
in English
| MEDLINE | ID: mdl-38352438
3.
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Mol Cytogenet
; 5: 17, 2012 Apr 05.
Article
in English
| MEDLINE | ID: mdl-22480366
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