Detalhe da pesquisa
1.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet
; 98(4): 782-8, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040691
2.
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Genet Med
; 19(1): 77-82, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27308838
3.
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.
Am J Med Genet A
; 167A(5): 1117-20, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25755011