Lista de obras -

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease

artículo científico publicado en 2004

Challenges raised by cross-border testing of rare diseases in the European union

artículo científico publicado en 2016

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

artículo científico publicado en 2004

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

artículo científico publicado en 2003

Community genetics. Its definition 2010.

artículo científico publicado en 2010

Definitions of genetic testing in European legal documents

artículo científico publicado en 2012

Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation

artículo científico publicado en 2009

Doctor's expertise and managing discrepant information from other sources in genetic counseling: a conversation analytic perspective

artículo científico

Epidemiology of early-onset Parkinson's disease in Finland

artículo científico publicado en 2015

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression

artículo científico publicado en 2016

Genetic causal beliefs about morbidity: associations with health behaviors and health outcome beliefs about behavior changes between 1982-2002 in the Finnish population

artículo científico publicado en 2015

Genetics in an isolated population like Finland: a different basis for genomic medicine?

artículo científico publicado en 2017

Medically assisted reproduction and ethical challenges

artículo científico publicado en 2005

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

artículo científico publicado en 2007

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

artículo científico publicado en 2003

Mutations in SEC63 cause autosomal dominant polycystic liver disease

artículo científico publicado en 2004

Perceptions of legislation relating to the sharing of genomic biobank results with donors-a survey of BBMRI-ERIC biobanks

artículo científico publicado en 2018

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

artículo científico publicado en 2014

Points to consider in assessing and appraising predictive genetic tests

artículo científico publicado en 2010

Polycystic liver and kidney diseases

artículo científico publicado en 2005

Provision of genetic services in Europe: current practices and issues

artículo científico publicado en 2003

Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study

artículo científico publicado en 2013

Rare diseases and effective treatments: are we delivering?

artículo científico publicado en 2015

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

artículo científico publicado en 2008

Scope of definitions of genetic testing: evidence from a EuroGentest survey

artículo científico publicado en 2010

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

artículo científico publicado en 2005

The mutation spectrum in RECQL4 diseases

artículo científico publicado en 2008

What is ideal genetic counselling? A survey of current international guidelines

artículo científico publicado en 2008

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

artículo científico publicado en 2014

Lista de obras de

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease

Challenges raised by cross-border testing of rare diseases in the European union

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

Community genetics. Its definition 2010.

Definitions of genetic testing in European legal documents

Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation

Doctor's expertise and managing discrepant information from other sources in genetic counseling: a conversation analytic perspective

Epidemiology of early-onset Parkinson's disease in Finland

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression

Genetic causal beliefs about morbidity: associations with health behaviors and health outcome beliefs about behavior changes between 1982-2002 in the Finnish population

Genetics in an isolated population like Finland: a different basis for genomic medicine?

Medically assisted reproduction and ethical challenges

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

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

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Perceptions of legislation relating to the sharing of genomic biobank results with donors-a survey of BBMRI-ERIC biobanks

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Points to consider in assessing and appraising predictive genetic tests

Polycystic liver and kidney diseases

Provision of genetic services in Europe: current practices and issues

Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study

Rare diseases and effective treatments: are we delivering?

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

Scope of definitions of genetic testing: evidence from a EuroGentest survey

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

The mutation spectrum in RECQL4 diseases

What is ideal genetic counselling? A survey of current international guidelines

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes