Default: Human Mutation

ISSN: 1059-7794

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Human Mutation Q1 Unclaimed

Wiley-Liss Inc. United States
Unfortunately this journal has not been claimed yet. For this reason, some information may be unavailable.

Human Mutation is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 155. It has a price of 3450 €. It has an SJR impact factor of 2,41 and it has a best quartile of Q1. It is published in English.

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy: Open Choice

Type of publications:

Publication frecuency: -

Price

3450 €

Gold OA

-

Green OA

0 €

Non OA

Metrics

Human Mutation

2,41

SJR Impact factor

155

H Index

212

Total Docs (Last Year)

560

Total Docs (3 years)

9612

Total Refs

2481

Total Cites (3 years)

511

Citable Docs (3 years)

4,17

Cites/Doc (2 years)

45,34

Ref/Doc


Best articles

A collection of 33 novel human mtDNA homoplasmic variants

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A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls

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A common mutation in theCBSgene explains a high incidence of homocystinuria in the Qatari population

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A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease

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A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9

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A homozygous variant disrupting the PIGH

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A nicotineC-oxidase gene (CYP2A6) polymorphism important for promoter activity

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A Novel PTPN11 mutation in LEOPARD syndrome

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A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit genePDHA1

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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

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Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations

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An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC

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Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR

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Analysis ofABCA4in mixed Spanish families segregating different retinal dystrophies

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Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003

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Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders

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Biallelic variants in

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BRCA1 and BRCA2 in Indian breast cancer patients

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BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic

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BRCA1 andBRCA2 sequence variants in Chinese breast cancer families

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Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome

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Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome

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Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

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Clinical and molecular basis of classical lissencephaly: Mutations in theLIS1 gene (PAFAH1B1)

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