# Human Genetics

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

## Facts

| Field | Value |
| --- | --- |
| Open Access | false |
| ISSN-L | 0018-7348 |
| ISSNs | 0018-7348,0340-6717,1432-1203 |
| OpenAlex ID | https://openalex.org/S199832308 |
| Publisher | Springer Science+Business Media |

## Journal papers

Showing 12 of 16.

- [Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss](https://scholariq.org/papers/comprehensive-genetic-testing-in-the-clinical-evaluation-of-1119-patients-with/)
- [Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy](https://scholariq.org/papers/efficient-direct-chromosome-analyses-and-enzyme-determinations-from-chorionic/)
- [Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number](https://scholariq.org/papers/mildly-affected-patients-with-spinal-muscular-atrophy-are-partially-protected-by/)
- [Population stratification confounds genetic association studies among Latinos](https://scholariq.org/papers/population-stratification-confounds-genetic-association-studies-among-latinos/)
- [Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy](https://scholariq.org/papers/identification-of-99-novel-mutations-in-a-worldwide-cohort-of-1-056-patients/)
- [A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder](https://scholariq.org/papers/a-novel-approach-of-homozygous-haplotype-sharing-identifies-candidate-genes-in/)
- [Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population](https://scholariq.org/papers/mutation-and-haplotype-analyses-of-the-werner-s-syndrome-gene-based-on-its/)
- [Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population](https://scholariq.org/papers/assessment-of-association-of-rs2200733-on-chromosome-4q25-with-atrial/)
- [Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36](https://scholariq.org/papers/genomewide-scan-in-ashkenazi-jewish-families-demonstrates-evidence-of-linkage-of/)
- [Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability](https://scholariq.org/papers/heterozygous-hnrnpu-variants-cause-early-onset-epilepsy-and-severe-intellectual/)
- [The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review](https://scholariq.org/papers/the-clinical-utility-of-polygenic-risk-scores-in-genomic-medicine-practices-a/)
- [Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract](https://scholariq.org/papers/mutations-of-the-slit2-robo2-pathway-genes-slit2-and-srgap1-confer-risk-for/)

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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.