Lv1
48 积分 2023-01-05 加入
Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss
14小时前
待确认
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
7天前
已完结
The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024)
16天前
已完结
Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes
16天前
已完结
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis
1个月前
已完结
Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant
1个月前
已完结
Phenotypic complexities of rare heterozygous neurexin-1 deletions
1个月前
已完结
A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome
1个月前
已完结
Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights
2个月前
已完结
Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4
2个月前
已完结
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