Detalhe da pesquisa
1.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
2.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
3.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clin Genet
; 98(1): 91-98, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335897
4.
Recontacting patients for multigene panel testing in hereditary cancer: Efficacy and insights.
J Genet Couns
; 28(6): 1198-1207, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31553108
5.
Twelve tips for OSCE-style Tele-assessment.
MedEdPublish (2016)
; 9: 168, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073839
6.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 2079, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048695
7.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 883, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770872
8.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 9(1): 4619, 2018 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30397230
9.
Synthesis and characterization of new permanently charged poly(amidoammonium) salts and evaluation of their DNA complexes for gene transport.
Biomacromolecules
; 6(3): 1769-81, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15877404