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1.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38362852
2.
Pharmacogenetics may explain part of the interindividual variability of dobutamine pharmacodynamics in neonates.
Br J Clin Pharmacol
; 88(9): 4155-4162, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35437830
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35123446
4.
High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction.
J Child Neurol
; 38(6-7): 373-388, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37427422
5.
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Mol Genet Genomic Med
; 11(6): e2157, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36860143
6.
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Cancers (Basel)
; 15(14)2023 Jul 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37509324
7.
MODY2 caused by a novel mutation of GCK gene.
J Pediatr Endocrinol Metab
; 25(7-8): 801-3, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23155715
8.
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.
Front Genet
; 13: 1020543, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36425062
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36341167
10.
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Front Genet
; 13: 881100, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35938029
11.
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
Front Genet
; 12: 719437, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34447415
12.
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.
Front Genet
; 12: 796862, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35003227
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34486251
14.
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.
Mol Genet Metab Rep
; 19: 100467, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30963030
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31186545
16.
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
Mol Syndromol
; 9(4): 182-189, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-30181735
17.
Presumed Perinatal Stroke: Risk Factors, Clinical and Radiological Findings.
J Child Neurol
; 31(5): 621-8, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26446909
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26505556
19.
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
Mol Syndromol
; 6(3): 147-51, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26732610
20.
Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient.
J Cyst Fibros
; 3(1): 58-60, 2004 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-15463888