Detalhe da pesquisa
1.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Hum Mol Genet
; 32(22): 3123-3134, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166351
2.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Am J Hum Genet
; 106(5): 623-631, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275884
3.
Etiological diagnosis in limb reduction defects and the number of affected limbs: A population-based study in the Northern Netherlands.
Am J Med Genet A
; 182(12): 2909-2918, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954639
4.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
5.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182950
6.
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Eur J Hum Genet
; 29(11): 1669-1676, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34456334
7.
Germline AGO2 mutations impair RNA interference and human neurological development.
Nat Commun
; 11(1): 5797, 2020 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199684
8.
Rapid Targeted Genomics in Critically Ill Newborns.
Pediatrics
; 140(4)2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28939701
9.
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Nat Neurosci
; 19(9): 1194-6, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27479843