Detalhe da pesquisa
1.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
2.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
3.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
4.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906836
5.
Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis.
PeerJ
; 6: e4740, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29977664
6.
Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.
Epigenetics
; 11(3): 216-26, 2016 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26890210
7.
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
Cerebellum Ataxias
; 2: 19, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26677414
8.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Eur J Hum Genet
; 22(7): 881-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24281367
9.
ßhCG and PAPP-A in first trimester: predictive factors for preeclampsia?
Hypertens Pregnancy
; 31(2): 261-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22148978
10.
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.
Clin Dysmorphol
; 25(2): 73-6, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26683739