European Journal of Human Genetics : Ejhg
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Publication Venue For
- Erratum: Common genetic variation and performance on standardized cognitive tests (European Journal of Human Genetics (2010) 18 (820) DOI: 10.1038/ejhg.2010.2). 18:820. 2010
- PTEN hamartoma tumor syndromes.. 16:1289-1300. 2008
- Genomic Medicine: 'grand challenges' in the translation of genomics to human health.. 16:873-874. 2008
- FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).. 15:379-382. 2007
- Erratum: A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: Evidence for a major susceptibility locus on chromosome 2p (European Journal of Human Genetics (2006) vol. 14 (307-3167) 10.1038/sj.ejhg.5201532). 15:714. 2007
- A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.. 14:307-316. 2006
- A centenarian-only approach for assessing gene-gene interaction in human longevity.. 10:119-124. 2002
- Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.. 9:659-666. 2001
- Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.. 9:388-391. 2001
- The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.. 7:717-723. 1999
- Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2).. 6:534-541. 1998
- Screening of CFTR mutations in an isolated population: identification of carriers and patients.. 6:181-184. 1998
- A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.. 5:266-270. 1997
- An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.. 4:101-104. 1996
- Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.. 1:306-313. 1993
- AAV gene therapy for glycogen storage diseases 2022
- Further evidence to link CHD family-chromatin remodeler genes and neurodevelopment: de novo variants in CHD5 are associated with intellectual disability, epilepsy and autism 2020
- SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion 2019
- De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila 2019
- Genotype-phenotype correlation associated with de novo missense variants in TRRAP: from autism spectrum disorder to syndromic intellectual disability 2019