# Clinical Genetics

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/clinical-genetics/

## Facts

| Field | Value |
| --- | --- |
| Open Access | false |
| ISSN-L | 0009-9163 |
| ISSNs | 0009-9163,1399-0004 |
| OpenAlex ID | https://openalex.org/S4954800 |
| Publisher | Wiley |

## Journal papers

Showing 12 of 15.

- [Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing](https://scholariq.org/papers/debunking-occam-s-razor-diagnosing-multiple-genetic-diseases-in-families-by/)
- [<scp>CLOVES</scp> syndrome: review of a <scp>PIK3CA</scp>‐related overgrowth spectrum (<scp>PROS</scp>)](https://scholariq.org/papers/scp-cloves-scp-syndrome-review-of-a-scp-pik3ca-scp-related-overgrowth-spectrum/)
- [<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center](https://scholariq.org/papers/i-de-novo-i-variants-in-neurodevelopmental-disorders-experiences-from-a-tertiary/)
- [Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes](https://scholariq.org/papers/genetic-heterogeneity-in-leigh-syndrome-highlighting-treatable-and-novel-genetic/)
- [Trends in the frequencies of consanguineous marriages in the Israeli Arab community](https://scholariq.org/papers/trends-in-the-frequencies-of-consanguineous-marriages-in-the-israeli-arab/)
- [Genotype/phenotype analysis in Chinese laminin‐α2 deficient congenital muscular dystrophy patients](https://scholariq.org/papers/genotype-phenotype-analysis-in-chinese-laminin-2-deficient-congenital-muscular/)
- [Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and <i>de novo</i> duplication 3q26.32‐q27.2](https://scholariq.org/papers/comprehensive-review-of-the-duplication-3q-syndrome-and-report-of-a-patient-with/)
- [Oro‐facio‐digital syndromes I and II: radiological methods for diagnosis and the clinical variations](https://scholariq.org/papers/oro-facio-digital-syndromes-i-and-ii-radiological-methods-for-diagnosis-and-the/)
- [Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients](https://scholariq.org/papers/molecular-and-phenotypic-spectrum-of-noonan-syndrome-in-chinese-patients/)
- [Three novel mutations in the <i>PORCN</i> gene underlying focal dermal hypoplasia](https://scholariq.org/papers/three-novel-mutations-in-the-i-porcn-i-gene-underlying-focal-dermal-hypoplasia/)
- [Huntington disease and Huntington disease‐like in a case series from Brazil](https://scholariq.org/papers/huntington-disease-and-huntington-disease-like-in-a-case-series-from-brazil/)
- [Decreasing mosaicism in Down's syndrome](https://scholariq.org/papers/decreasing-mosaicism-in-down-s-syndrome/)

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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.