ISSN: 1769-7212

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European Journal of Medical Genetics Q2 Unclaimed

Elsevier Masson s.r.l. France

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European Journal of Medical Genetics is a journal indexed in SJR in Medicine (miscellaneous) and Genetics with an H index of 64. It has a price of 2520 €. It has an SJR impact factor of 0,666 and it has a best quartile of Q2. It is published in English. It has an SJR impact factor of 0,666.

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy: Open Choice

Type of publications:

Publication frecuency: -

Categories: Medicine (miscellaneous) (Q2) Genetics (Q3) Genetics (clinical) (Q3) Genetics (clinical) (Q3)

Price

2520 €

Inmediate OA

NPD

Embargoed OA

0 €

Non OA

Metrics

0,666

SJR Impact factor

64

H Index

141

Total Docs (Last Year)

655

Total Docs (3 years)

4653

Total Refs

1186

Total Cites (3 years)

627

Citable Docs (3 years)

1.73

Cites/Doc (2 years)

33.0

Ref/Doc

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Aims and Scope

Best articles by citations

A different approach to telomere analysis with ddPRINS in chronic lymphocytic leukemia

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations

Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report

DYRK1A mutations in two unrelated patients

Catel-Manzke syndrome: Two new patients and a critical review of the literature

Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia

Root dentin anomaly and a PLG mutation

SHOW MORE ARTICLES

Novel mutations of the MLC1 gene in Turkish patients

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

A new mutation for Huntington disease following maternal transmission of an intermediate allele

Severe lysosomal storage disease of liver in del(1)(p36): A new presentation

Tall stature and duplication of the insulin-like growth factor I receptor gene

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome

Clinical benefits of preimplantation genetic testing for aneuploidy (PGT-A) for all in vitro fertilization treatment cycles

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability