Detalhe da pesquisa
1.
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
Am J Hum Genet
; 98(5): 909-918, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132593
2.
Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.
J Hum Genet
; 63(12): 1231-1239, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30232357
3.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495017
4.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948486
5.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290657
6.
The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.
Clin Lab Med
; 40(1): 61-67, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32008640