Found: 16
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Clustering of Crohn's disease within affected sibships.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 179
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- Article
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200929
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- Article
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 170, doi. 10.1038/sj.ejhg.5200920
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- Article
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 109, doi. 10.1038/sj.ejhg.5200930
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- Article
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 196, doi. 10.1038/sj.ejhg.5200933
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- Article
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200934
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- Article
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 201, doi. 10.1038/sj.ejhg.5200935
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- Article
Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 112, doi. 10.1038/sj.ejhg.5200936
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- Article
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 145
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- Article
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 138, doi. 10.1038/sj.ejhg.5200938
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- Article
A candidate region for Asperger syndrome defined by two 17p breakpoints.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 189, doi. 10.1038/sj.ejhg.5200939
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- Article
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 163, doi. 10.1038/sj.ejhg.5200940
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- Article
Combined high resolution linkage and association mapping of quantitative trait loci.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 125, doi. 10.1038/sj.ejhg.5200941
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- Article
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 155, doi. 10.1038/sj.ejhg.5200942
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- Article
On the role of CFTR, PSSR1 and PST1/SPINK1 in idiopathic chronic pancreatitis.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 107, doi. 10.1038/sj.ejhg.5200944
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- Article
'Gain of function' PRSS1 mutations are rare in ICP.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 108, doi. 10.1038/sj.ejhg.5200945
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- Article