Lv1
80 积分 2022-11-22 加入
Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans
6天前
已完结
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
25天前
已完结
Consensus statement on neonatal screening for congenital adrenal hyperplasia
25天前
已完结
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
28天前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships
1个月前
已完结
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
1个月前
已完结
New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family
1个月前
已完结
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
1个月前
已关闭
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
1个月前
已完结
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss
1个月前
已关闭
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