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Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Journal of community genetics, 2021-04, Vol.12 (2), p.277-290

2021

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Prolonged survival in a patient with a novel pyrroline‐5‐carboxylase reductase 2 genetic variant

European journal of neurology, 2019-04, Vol.26 (4), p.e45-e46

2019

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Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

Carcinogenesis (New York), 2007-05, Vol.28 (5), p.1040-1045

2007

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Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing

Journal of medical genetics, 2007-11, Vol.44 (11), p.732-738

2007

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APOE and AGT in the Finnish p.Arg133Cys CADASIL population

Acta neurologica Scandinavica, 2015-12, Vol.132 (6), p.430-434

2015

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Molecular genetic and clinical findings in identical twins with CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.294-294

2009

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“I would like to discuss it further with an expert”: a focus group study of Finnish adults’ perspectives on genetic secondary findings

Journal of community genetics, 2018-07, Vol.9 (3), p.305-314

2018

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The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

Public health genomics, 2013-01, Vol.16 (5), p.241-250

2013

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The need for interaction between assisted reproduction technology and genetics. Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.509-511

2006

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Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

JNCI : Journal of the National Cancer Institute, 2001-01, Vol.93 (2), p.121-127

2001

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Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

Human reproduction (Oxford), 2014-08, Vol.29 (8), p.1603-1609

2014

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Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

Journal of clinical oncology, 2000-06, Vol.18 (11), p.2193-2200

2000

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The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

PLoS genetics, 2005-10, Vol.1 (4), p.e50-e50

2005

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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Nature genetics, 1993-08, Vol.4 (4), p.346-350

1993

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Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

Human molecular genetics, 2001-07, Vol.10 (14), p.1503-1510

2001

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Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer

Diabetologia, 2005-02, Vol.48 (2), p.242-250

2005

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Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility

Neurology, 2002-08, Vol.59 (4), p.630

2002

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Mutations in SEC63 cause autosomal dominant polycystic liver disease

Nature genetics, 2004-06, Vol.36 (6), p.575-577

2004

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Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

Human molecular genetics, 2003-11, Vol.12 (21), p.2837-2844

2003

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Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21

American journal of human genetics, 2001-08, Vol.69 (2), p.440-446

2001

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Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer

Journal of medical genetics, 2001-11, Vol.38 (11), p.787-792

2001

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Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer

Journal of medical genetics, 2000-02, Vol.37 (2), p.108-113

2000

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Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients

Journal of medical genetics, 1987-08, Vol.24 (8), p.474-481

KAARIAINEN, H

1987

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Alport's syndrome in 78 patients: epidemiological and clinical study

Acta Paediatrica, 1996-11, Vol.85 (11), p.1300-1306

1996

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Assisted reproduction and genetics

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.505-505

Kääriäinen, Helena

2006

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Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Prolonged survival in a patient with a novel pyrroline‐5‐carboxylase reductase 2 genetic variant

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing

APOE and AGT in the Finnish p.Arg133Cys CADASIL population

Molecular genetic and clinical findings in identical twins with CADASIL

“I would like to discuss it further with an expert”: a focus group study of Finnish adults’ perspectives on genetic secondary findings

The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

The need for interaction between assisted reproduction technology and genetics. Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology

Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer

Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21

Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer

Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer

Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients

Alport's syndrome in 78 patients: epidemiological and clinical study

Assisted reproduction and genetics

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