Default: Journal of Medical Genetics

ISSN: 0022-2593

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Journal of Medical Genetics Q1 Unclaimed

BMJ Publishing Group United Kingdom
Unfortunately this journal has not been claimed yet. For this reason, some information may be unavailable.

Journal of Medical Genetics is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 164. It has an SJR impact factor of 2,45 and it has a best quartile of Q1. It is published in English.

Type: Journal

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Languages: English

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Journal of Medical Genetics


SJR Impact factor


H Index


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Citable Docs (3 years)


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Best articles

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

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A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

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A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

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A new seipin-associated neurodegenerative syndrome

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A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family

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A tribute to Margaret W. Thompson

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Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiarDNMT3AR882 mutation

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Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2

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Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy

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Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

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

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

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Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact

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Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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Combined exome and whole-genome sequencing identifies mutations inARMC4as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

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Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

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Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome

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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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Cowden's syndrome with immunodeficiency

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

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Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation

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Defining and managing incidental findings in genetic and genomic practice

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