# Journal of Medical Genetics

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/journal-of-medical-genetics/

## Facts

| Field | Value |
| --- | --- |
| Open Access | false |
| ISSN-L | 0022-2593 |
| ISSNs | 0022-2593,1468-6244 |
| OpenAlex ID | https://openalex.org/S112540174 |
| Publisher | BMJ |

## Journal papers

Showing 12 of 31.

- [International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia](https://scholariq.org/papers/international-guidelines-for-the-diagnosis-and-management-of-hereditary/)
- [Von Hippel-Lindau disease: a genetic study.](https://scholariq.org/papers/von-hippel-lindau-disease-a-genetic-study/)
- [Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)](https://scholariq.org/papers/guidelines-for-the-clinical-management-of-lynch-syndrome-hereditary-non/)
- [Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders](https://scholariq.org/papers/microdeletion-duplication-at-15q13-2q13-3-among-individuals-with-features-of/)
- [Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study](https://scholariq.org/papers/oral-pharmacological-chaperone-migalastat-compared-with-enzyme-replacement/)
- [<i>Methyl-CpG-binding protein 2</i> (<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome](https://scholariq.org/papers/i-methyl-cpg-binding-protein-2-i-i-mecp2-i-mutation-type-is-associated-with/)
- [<i>SOD1</i>, <i>ANG</i>, <i>VAPB</i>, <i>TARDBP</i>, and <i>FUS</i> mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations](https://scholariq.org/papers/i-sod1-i-i-ang-i-i-vapb-i-i-tardbp-i-and-i-fus-i-mutations-in-familial/)
- [Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity](https://scholariq.org/papers/joubert-syndrome-a-model-for-untangling-recessive-disorders-with-extreme-genetic/)
- [Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with <i>FOXC2</i> mutations or linkage to 16q24](https://scholariq.org/papers/analysis-of-the-phenotypic-abnormalities-in-lymphoedema-distichiasis-syndrome-in/)
- [<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects](https://scholariq.org/papers/i-grin2b-i-encephalopathy-novel-findings-on-phenotype-variant-clustering/)
- [Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome](https://scholariq.org/papers/phenotypic-spectrum-of-the-smad3-related-aneurysms-osteoarthritis-syndrome/)
- [<i>PALB2</i>, <i>CHEK2</i> and <i>ATM</i> rare variants and cancer risk: data from COGS](https://scholariq.org/papers/i-palb2-i-i-chek2-i-and-i-atm-i-rare-variants-and-cancer-risk-data-from-cogs/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.