Detalhe da pesquisa
1.
Pharmacogenetics may explain part of the interindividual variability of dobutamine pharmacodynamics in neonates.
Br J Clin Pharmacol
; 88(9): 4155-4162, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35437830
2.
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.
BMC Pregnancy Childbirth
; 22(1): 105, 2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35123446
3.
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
4.
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Cancers (Basel)
; 15(14)2023 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37509324
5.
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.
Front Genet
; 13: 1020543, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36425062
6.
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
Mol Genet Genomic Med
; 8(4): e1154, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022462
7.
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
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.
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
10.
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Mol Genet Metab Rep
; 15: 80-89, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30009132