Detalhe da pesquisa
1.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Am J Hum Genet
; 102(6): 1204-1211, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861106
2.
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
Dev Med Child Neurol
; 63(9): 1066-1074, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33948933
3.
Analysis of functional variants in mitochondrial DNA of Finnish athletes.
BMC Genomics
; 20(1): 784, 2019 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664900
4.
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 20(9): 1098, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300369
5.
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Acta Neuropathol
; 135(5): 727-742, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423877
6.
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Neuropediatrics
; 49(4): 256-261, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801191
7.
Breast-cancer risk in families with mutations in PALB2.
N Engl J Med
; 371(6): 497-506, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099575
8.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 19(1): 104-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27362913
9.
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Mol Genet Metab
; 120(4): 337-341, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28216384
10.
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.
BMC Med Genet
; 18(1): 14, 2017 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187756
11.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648933
12.
The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland.
J Genet Couns
; 25(3): 413-21, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26416184
13.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Am J Hum Genet
; 90(2): 308-13, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265015
14.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Eur J Hum Genet
; 32(5): 576-583, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467730
15.
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.
BMC Med Genet
; 14: 82, 2013 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23941127
16.
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.
BMC Med Genet
; 14: 73, 2013 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23870133
17.
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
J Hum Genet
; 58(8): 495-500, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595122
18.
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
J Clin Med
; 11(7)2022 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35407445
19.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
J Allergy Clin Immunol
; 125(2): 424-432.e8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159255
20.
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Nat Commun
; 10(1): 410, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679432