Lv5
927 积分 2024-12-05 加入
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families
9天前
已完结
Genetic Basis of Childhood Cardiomyopathy
17天前
已完结
Leukoencephalopathy with calcifications and cysts: A case report with literature review
19天前
已完结
Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4
23天前
已完结
SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity
27天前
已完结
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females
27天前
已完结
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay
1个月前
已完结
Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance
1个月前
已完结
Calibration and evaluation of machine-learning algorithms for missense variant classification under ACMG/ClinGen recommendations
1个月前
已关闭
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
2个月前
已完结
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