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Day surgery in Finland: a prospective cohort study of 14 day-surgery units

Acta anaesthesiologica Scandinavica, 2009-04, Vol.53 (4), p.455-463

2009

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Pericentric inversions of human chromosomes 9 and 10

American journal of human genetics, 1974-11, Vol.26 (6), p.746-766

1974

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Folate receptor overexpression induces toxicity in a diet-dependent manner in C. elegans

Scientific reports, 2024-01, Vol.14 (1), p.1066-1066, Article 1066

2024

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Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

American journal of human genetics, 2008-06, Vol.82 (6), p.1361-1367

2008

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MKS1 , encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

Nature genetics, 2006-02, Vol.38 (2), p.155-157

2006

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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.412-412, Article 412

2021

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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Nature genetics, 2008-02, Vol.40 (2), p.155-157

2008

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Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.59-59, Article 59

2022

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Breast Cancer Patients with p53 Pro72 Homozygous Genotype Have a Poorer Survival

Clinical cancer research, 2005-07, Vol.11 (14), p.5098-5103

2005

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Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

European heart journal, 2015-09, Vol.36 (34), p.2327-2337

2015

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

BMC cardiovascular disorders, 2021-03, Vol.21 (1), p.126-126, Article 126

2021

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Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S229

2021

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eP353 - Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S229-S229

2021

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Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.629-634

2015

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Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations

Journal of cardiovascular magnetic resonance, 2015-10, Vol.17 (1), p.89-89, Article 89

2015

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Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

PLoS genetics, 2011-06, Vol.7 (6), p.e1002139-e1002139

2011

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Mutant CHUK and Severe Fetal Encasement Malformation

The New England journal of medicine, 2010-10, Vol.363 (17), p.1631-1637

2010

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Oligonucleotide-selective sequencing for genetic diagnostics of pulmonary arterial hypertension

Heart, lung & circulation, 2014, Vol.23, p.e5-e5

2014

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The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1433-1438

2016

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B108 DIAGNOSTIC AND PROGNOSTIC ASSESSMENT OF PULMONARY VASCULAR DISEASE: Targeted Oligonucleotide-Selective Sequencing For Diagnostics Of Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2014-01, Vol.189, p.1

2014

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Timothy syndrome type 2 associated CACNA1C G402S mutation in a teenage girl with idiopathic ventricular fibrillation

Heart, lung & circulation, 2014, Vol.23, p.e4-e5

2014

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Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups

Human mutation, 2009-08, Vol.30 (8), p.E813-E830

2009

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Evaluation of RAD50 in familial breast cancer predisposition

International journal of cancer, 2006-06, Vol.118 (11), p.2911-2916

2006

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Day surgery in Finland: a prospective cohort study of 14 day-surgery units

Pericentric inversions of human chromosomes 9 and 10

Folate receptor overexpression induces toxicity in a diet-dependent manner in C. elegans

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

MKS1 , encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Breast Cancer Patients with p53 Pro72 Homozygous Genotype Have a Poorer Survival

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

eP353 - Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development

Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations

Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

Mutant CHUK and Severe Fetal Encasement Malformation

Oligonucleotide-selective sequencing for genetic diagnostics of pulmonary arterial hypertension

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

B108 DIAGNOSTIC AND PROGNOSTIC ASSESSMENT OF PULMONARY VASCULAR DISEASE: Targeted Oligonucleotide-Selective Sequencing For Diagnostics Of Pulmonary Arterial Hypertension

Timothy syndrome type 2 associated CACNA1C G402S mutation in a teenage girl with idiopathic ventricular fibrillation

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups

Evaluation of RAD50 in familial breast cancer predisposition

Deletion of TOP3[beta], a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

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