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- 2024
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Mark
Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
(
- Contribution to journal › Debate/Note/Editorial
- 2023
-
Mark
Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
(
- Contribution to journal › Article
- 2020
-
Mark
Willingness to donate genomic and other medical data : results from Germany
(
- Contribution to journal › Article
- 2019
-
Mark
The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
2019) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2017
-
Mark
Selected advances in genetics—cream of the crop
(
- Contribution to journal › Review (Book/Film/Exhibition/etc.)
- 2016
-
Mark
An update of a classical textbook.
(
- Contribution to journal › Review (Book/Film/Exhibition/etc.)
-
Mark
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants.
(
- Contribution to journal › Article
- 2015
-
Mark
Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
-
Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
(
- Contribution to journal › Article
-
Mark
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
(
- Contribution to journal › Article
-
Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
-
Mark
A genetic risk score for hypertension associates with the risk of ischemic stroke in a Swedish case-control study.
(
- Contribution to journal › Article
-
Mark
Heritability estimates on Hodgkin's lymphoma: a genomic- versus population-based approach.
(
- Contribution to journal › Article
-
Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
-
Mark
Reply to Mendez et al : the 'extremely ancient' chromosome that still isn't
(
- Contribution to journal › Letter
-
Mark
Whole-genome sequencing in newborn screening? : A statement on the continued importance of targeted approaches in newborn screening programmes
(
- Contribution to journal › Article
- 2014
-
Mark
The 'extremely ancient' chromosome that isn't : a forensic bioinformatic investigation of Albert Perry's X-degenerate portion of the Y chromosome
(
- Contribution to journal › Article
- 2013
-
Mark
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations
(
- Contribution to journal › Article
-
Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
- 2012
-
Mark
Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time
(
- Contribution to journal › Article
-
Mark
A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene.
(
- Contribution to journal › Article
-
Mark
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe
(
- Contribution to journal › Article
- 2011
-
Mark
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders
(
- Contribution to journal › Article
-
Mark
A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE
(
- Contribution to journal › Article
- 2010
-
Mark
The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of A beta in different brain regions
(
- Contribution to journal › Article
-
Mark
NordicDB: a Nordic pool and portal for genome-wide control data
(
- Contribution to journal › Article
- 2008
-
Mark
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives
(
- Contribution to journal › Article
-
Mark
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
(
- Contribution to journal › Article
-
Mark
What is ideal genetic counselling? A survey of current international guidelines
(
- Contribution to journal › Article
-
Mark
The effect of pedigree structure on detection of deletions and other null alleles.
(
- Contribution to journal › Article
-
Mark
Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region.
(
- Contribution to journal › Article
- 2007
-
Mark
Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations
(
- Contribution to journal › Article
-
Mark
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
(
- Contribution to journal › Article
- 2006
-
Mark
Handy book on cancer genetics risk assessment
(
- Contribution to journal › Review (Book/Film/Exhibition/etc.)
- 2005
-
Mark
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
(
- Contribution to journal › Article
-
Mark
Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.
(
- Contribution to journal › Article
- 2004
-
Mark
An excess of chromosome 1 breakpoints in male infertility.
(
- Contribution to journal › Article
-
Mark
Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile
(
- Contribution to journal › Article
-
Mark
1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
(
- Contribution to journal › Letter
- 2003
-
Mark
Population genetic screening programmes: technical, social, and ethical issues.
(
- Contribution to journal › Article
-
Mark
Provision of genetic services in Europe: current practices and issues
(
- Contribution to journal › Article
-
Mark
Genetic information and testing insurance and employment: technical, social, and ethical issues.
(
- Contribution to journal › Article
-
Mark
Introduction - Public and Professional Policy Committee Guidelines.
(
- Contribution to journal › Article
-
Mark
A candidate region for Asperger syndrome defined by two 17p breakpoints
(
- Contribution to journal › Article
-
Mark
Provision of genetic service in Europe: current practices and issues.
(
- Contribution to journal › Article
-
Mark
Data storage and DNA banking for biomedical research: technical, social and ethical issues.
(
- Contribution to journal › Article
- 2002
-
Mark
Both common and unique susceptibility genes in different rat strains with pristane-induced arthritis.
(
- Contribution to journal › Article
- 2001
-
Mark
Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease
(
- Contribution to journal › Article
-
Mark
Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families
(
- Contribution to journal › Article