Detalhe da pesquisa
1.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
; 89(4): 828-833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443317
2.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961569
3.
The effects of social comparison and depressive mood on adolescent social decision-making.
BMC Psychiatry
; 21(1): 3, 2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402153
4.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
5.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Am J Hum Genet
; 99(3): 720-727, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545676
6.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
7.
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
J Med Genet
; 54(2): 84-86, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27389779
8.
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Hum Genet
; 135(12): 1399-1409, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681385
9.
A Multidisciplinary Approach to Puberty and Fertility in Girls with Turner Syndrome.
Pediatr Endocrinol Rev
; 14(1): 33-47, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28508615
10.
Research and Evaluation of a Cyberchondria Severity Scale in a Chinese Context.
Psychol Res Behav Manag
; 16: 4417-4429, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37936970
11.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Ann Clin Transl Neurol
; 5(10): 1277-1285, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349862
12.
Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.
J Community Genet
; 6(2): 137-45, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564014