Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Am J Hum Genet
; 96(2): 245-57, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597510
3.
Three families with mild PMM2-CDG and normal cognitive development.
Am J Med Genet A
; 173(6): 1620-1624, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425223
4.
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.
Front Genet
; 12: 796862, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35003227
5.
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
Eur J Pediatr
; 169(4): 469-73, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19768645
6.
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.
FEBS Lett
; 594(4): 717-727, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31627256
7.
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.
Int J Pediatr Otorhinolaryngol
; 73(1): 103-7, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19027966
8.
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
Eur J Hum Genet
; 27(11): 1649-1658, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186545
9.
Girl with partial Turner syndrome and absence epilepsy.
Pediatr Neurol
; 38(4): 289-92, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18358412
10.
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.
Clin Case Rep
; 4(8): 824-30, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27525095
11.
Prenatal diagnosis of 17p13.1p13.3 duplication.
Case Rep Med
; 2012: 840538, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23118768
12.
The live-birth prevalence of mucopolysaccharidoses in Estonia.
Genet Test Mol Biomarkers
; 16(8): 846-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22480138
13.
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.
Int J Pediatr Otorhinolaryngol
; 74(9): 1007-12, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20708129
14.
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
Pediatr Neurol
; 42(3): 227-30, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159436
15.
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Eur J Hum Genet
; 18(8): 872-80, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179744
16.
Descriptive epidemiology of Down's syndrome in Estonia.
Paediatr Perinat Epidemiol
; 20(6): 512-9, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17052289
17.
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.
Am J Med Genet A
; 140(18): 1936-43, 2006 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906556
18.
Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia.
Community Genet
; 6(3): 166-70, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-15243997
19.
The neonatal phenotype of Prader-Willi syndrome.
Am J Med Genet A
; 140(11): 1241-4, 2006 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16642508