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1.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906466
2.
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Hum Mutat
; 37(6): 540-548, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26919060
3.
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
Am J Med Genet A
; 167A(10): 2411-7, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26033833
4.
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
Clin Lab Med
; 40(2): 149-161, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32439066
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