Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
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
3.
Leopard syndrome: a report of five cases from one family in two generations.
Eur J Pediatr
; 173(6): 819-22, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24401936
4.
The prevalence of congenital anomalies: nationwide study in 2020 in Estonia.
J Matern Fetal Neonatal Med
; 36(2): 2259050, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37743247
5.
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Mol Genet Genomic Med
; 11(6): e2157, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860143
6.
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.
medRxiv
; 2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034709
7.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
medRxiv
; 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425688
8.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Epigenomics
; 15(6): 351-367, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249002
9.
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
JIMD Rep
; 63(6): 604-613, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341167
10.
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
11.
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.
Mol Genet Genomic Med
; 9(10): e1787, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34486251
12.
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Nat Commun
; 12(1): 6227, 2021 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711829
13.
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
14.
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.
Eur J Med Genet
; 63(2): 103660, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048081
15.
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.
Mol Genet Metab Rep
; 19: 100467, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963030
16.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Mol Genet Genomic Med
; 7(9): e915, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392824
17.
High incidence of low vitamin B12 levels in Estonian newborns.
Mol Genet Metab Rep
; 15: 1-5, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29387561
18.
Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
JIMD Rep
; 40: 39-45, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28956315
19.
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Neurology
; 87(11): 1140-51, 2016 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27521439
20.
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Genet Test Mol Biomarkers
; 19(12): 684-91, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26505556