Detalhe da pesquisa
1.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
2.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
3.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
4.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Am J Hum Genet
; 99(4): 860-876, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693233
5.
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Am J Med Genet A
; 170(8): 2173-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27250579
6.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Am J Hum Genet
; 99(6): 1405, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912046
7.
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
8.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Sci Adv
; 9(7): eade4814, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800428
9.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
HGG Adv
; 4(1): 100157, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408368
10.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328047
11.
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
12.
Regulatory landscape of providing information on newborn screening to parents across Europe.
Eur J Hum Genet
; 29(1): 67-78, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33040093
13.
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
J Clin Invest
; 131(7)2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33539324
14.
Complex I deficiency and Leigh syndrome through the eyes of a clinician.
EMBO Mol Med
; 12(11): e13187, 2020 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124751
15.
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Mol Genet Metab Rep
; 25: 100677, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33294372
16.
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
17.
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
18.
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
19.
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
Eur J Med Genet
; 62(11): 103572, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423443
20.
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