Default: European Journal of Human Genetics

ISSN: 1018-4813

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European Journal of Human Genetics Q1 Unclaimed

Nature Publishing Group United Kingdom
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European Journal of Human Genetics is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 142. It has a price of 2790 €. It has an SJR impact factor of 1,538 and it has a best quartile of Q1. It is published in English. It has an SJR impact factor of 1,538.

European Journal of Human Genetics focuses its scope in these topics and keywords: variants, gene, congenital, patients, syndrome, utility, chromosome, genetic, card, mutation, ...

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy: Open Choice

Type of publications:

Publication frecuency: -


2790 €

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European Journal of Human Genetics


SJR Impact factor


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Aims and Scope

variants, gene, congenital, patients, syndrome, utility, chromosome, genetic, card, mutation, beckwith, autosomal, active, choose, european, tumour, wiedemann, search, protein, number, characterization, dpagt, cancer, identified, inactivation, kcnq, loci, loss, mutations,

Best articles by citations

Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

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Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections

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A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases

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Expansion to full mutation of a FMR1 intermediate allele over two generations

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Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome

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Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

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Familial Mediterranean fever seems to be not uncommon in Greece

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The family based association test method: strategies for studying general genotype-phenotype associations

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Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

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Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6

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Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation

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Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a chinese kindred

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The Genetic Basis of Common Diseases, second edition

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Erratum: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

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Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective

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Data storage and DNA banking for biomedical research: technical, social and ethical issues

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The deleted in colorectal carcinoma (DCC) gene 201 R => G polymorphism: no evidence for genetic association with autoimmune disease

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

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Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

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Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

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Karyotyping of human synaptonemal complexes by cenM-FISH

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Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer's disease patients

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Erratum: Genome-wide scanning for linkage in Finnish breast cancer families

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Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes

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