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C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients JOURNAL ARTICLE published July 2015 in European Journal of Human Genetics |
The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate JOURNAL ARTICLE published March 2008 in European Journal of Human Genetics |
Erratum: Parental mosaicism of JAG1 mutations in families with Alagille syndrome JOURNAL ARTICLE published July 2001 in European Journal of Human Genetics |
Genetic discrimination: Too few data JOURNAL ARTICLE published January 2003 in European Journal of Human Genetics |
Replication of reported linkages for dyslexia and spelling and suggestive evidence for novel regions on chromosomes 4 and 17 JOURNAL ARTICLE published February 2007 in European Journal of Human Genetics |
X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1) JOURNAL ARTICLE published January 2002 in European Journal of Human Genetics |
Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia JOURNAL ARTICLE published September 2019 in European Journal of Human Genetics Research funded by Eesti Teadusagentuur (PRG243,PUT1339,PRG243) | EC | European Regional Development Fund (2014-2020.4.01.16-0771,2014-2020.4.01.15-0012,2014-2020.4.01.15-0012) | Ministry of Education and Research | Estonian Research Competency Council (IUT24-1,IUT24-1,IUT24-1,IUT24-1,IUT24-1,IUT24-1) |
Genetic background of HSH in three Polish families and a patient with an X;9 translocation JOURNAL ARTICLE published January 2006 in European Journal of Human Genetics |
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia JOURNAL ARTICLE published 11 April 2024 in European Journal of Human Genetics |
Inherited and de novo mutations in sporadic cases of DYT1-dystonia JOURNAL ARTICLE published March 2002 in European Journal of Human Genetics |
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster JOURNAL ARTICLE published January 2014 in European Journal of Human Genetics |
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model JOURNAL ARTICLE published July 2011 in European Journal of Human Genetics |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia JOURNAL ARTICLE published March 2008 in European Journal of Human Genetics |
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing JOURNAL ARTICLE published January 2021 in European Journal of Human Genetics Research funded by U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (P01HD093363,R01GM120609) | Foundation for the National Institutes of Health (P01HD093363,P01HD093363,R01GM120609) |
Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients JOURNAL ARTICLE published March 1999 in European Journal of Human Genetics |
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals JOURNAL ARTICLE published February 2022 in European Journal of Human Genetics Research funded by EC | Horizon 2020 Framework Programme (779257,779257) | ZonMw (015014066,843002608) |
Deletion and duplication screening in the DMD gene using MLPA JOURNAL ARTICLE published November 2005 in European Journal of Human Genetics |
Identification of novel USH2A mutations: implications for the structure of USH2A protein JOURNAL ARTICLE published July 2000 in European Journal of Human Genetics |
HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort JOURNAL ARTICLE published May 2008 in European Journal of Human Genetics |
Genetic Services in Hungary JOURNAL ARTICLE published 1997 in European Journal of Human Genetics |