Default: Journal of Medical Genetics

ISSN: 0022-2593

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Journal of Medical Genetics Q1 Unclaimed

BMJ Publishing Group United Kingdom
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Journal of Medical Genetics is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 170. It has an SJR impact factor of 2,439 and it has a best quartile of Q1. It is published in English. It has an SJR impact factor of 2,439.

Journal of Medical Genetics focuses its scope in these topics and keywords: syndrome, mutations, chromosome, gene, ca, patients, mutation, protein, study, human, ...

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy:

Type of publications:

Publication frecuency: -

Price

- €

Inmediate OA

NPD

Embargoed OA

- €

Non OA

Metrics

Journal of Medical Genetics

2,439

SJR Impact factor

170

H Index

178

Total Docs (Last Year)

339

Total Docs (3 years)

6427

Total Refs

1887

Total Cites (3 years)

322

Citable Docs (3 years)

5,28

Cites/Doc (2 years)

36,11

Ref/Doc

Aims and Scope


syndrome, mutations, chromosome, gene, ca, patients, mutation, protein, study, human, promoter, genes, somatic, testing, genetic, sequencing, causing, syndromea, type, encoding,



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The battle of replication fork

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Gain-of-function mutation inTRPV4identified in patients with osteonecrosis of the femoral head

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A new seipin-associated neurodegenerative syndrome

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Current needs for human and medical genomics research infrastructure in low and middle income countries: Table 1

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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

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The whole truth and nothing but the truth, but what is the truth?

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Contribution of the low-frequency, loss-of-function p.R270H mutation inFFAR4(GPR120) to increased fasting plasma glucose levels

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Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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Regulating the advertising of genetic tests in Europe: a balancing act

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Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation

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Mosaic trisomy 13: understanding origin using SNP array

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Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

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EIF4G1is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts: Table1

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants

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Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

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Mutations inMYO1Hcause a recessive form of central hypoventilation with autonomic dysfunction

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Mutations inSLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

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Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors

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Stable non-Robertsonian dicentric chromosomes: four new cases and a review

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Genomic variations integrated database forMUTYH-associated adenomatous polyposis

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Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

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Deregulation of EIF4E: a novel mechanism for autism

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor a gene (THRA)

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