Facet browsing currently unavailable
Page 3 of 6371 results
Sort by: relevance publication year
Genetic Services in Belgium JOURNAL ARTICLE published 1997 in European Journal of Human Genetics |
Contents Vol. 4, 1996 JOURNAL ARTICLE published 1996 in European Journal of Human Genetics |
Audit of Maternal Serum Screening: Strategies to Augment Counselling in Response to Women's Views JOURNAL ARTICLE published 1996 in European Journal of Human Genetics |
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes JOURNAL ARTICLE published August 2022 in European Journal of Human Genetics |
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes JOURNAL ARTICLE published October 2021 in European Journal of Human Genetics Research funded by Eesti Teadusagentuur (PRG243,PRG243,PRG243,PRG1071,PRG243,PRG1071) | Suomalainen Tiedeakatemia (329257) | U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (3UM1HG008901-03S1) | Haridus- ja Teadusministeerium (IUT24-1) | EC | European Regional Development Fund (2014-2020.4.01.16-0024 (MOBTT53),2014-2020.4.01.16-0024 (MOBTT53)) |
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia JOURNAL ARTICLE published February 2007 in European Journal of Human Genetics |
Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11 JOURNAL ARTICLE published April 2002 in European Journal of Human Genetics |
Gene mapping: Balance among quality, quantity and cost of data in the era of whole-genome mapping for complex disease JOURNAL ARTICLE published November 2006 in European Journal of Human Genetics |
Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study JOURNAL ARTICLE published January 2003 in European Journal of Human Genetics |
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis JOURNAL ARTICLE published June 2010 in European Journal of Human Genetics |
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation JOURNAL ARTICLE published November 2013 in European Journal of Human Genetics |
Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome JOURNAL ARTICLE published September 2023 in European Journal of Human Genetics |
Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin JOURNAL ARTICLE published January 2006 in European Journal of Human Genetics |
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome JOURNAL ARTICLE published October 2018 in European Journal of Human Genetics |
Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region JOURNAL ARTICLE published January 2001 in European Journal of Human Genetics |
Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia JOURNAL ARTICLE published April 2019 in European Journal of Human Genetics |
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis JOURNAL ARTICLE published August 2018 in European Journal of Human Genetics |
Trends in genetic patent applications: the commercialization of academic intellectual property JOURNAL ARTICLE published October 2014 in European Journal of Human Genetics |
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia JOURNAL ARTICLE published May 2005 in European Journal of Human Genetics |
Singleton SNPs in the human genome and implications for genome-wide association studies JOURNAL ARTICLE published April 2008 in European Journal of Human Genetics |