Lv11
30 积分 2025-12-27 加入
The differences in quantities of α2‐and α1‐globin gene variants in heterozygotes
7小时前
已完结
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss
8小时前
已完结
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China
8小时前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
11天前
已完结
Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria
15天前
已完结
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield
21天前
已完结
Characterization of large deletions in the DHCR7 gene
25天前
已完结
Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and Italy
25天前
已完结
Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome
25天前
已完结
The mutational spectrum of brachydactyly type C
1个月前
已完结
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