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66 积分 2023-08-29 加入
Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications
2天前
已完结
A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene
4天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
8天前
已完结
Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia
9天前
已完结
Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing
10天前
已完结
Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia
11天前
已完结
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases
11天前
已关闭
Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects
24天前
已完结
The compound heterozygous mutations of CFAP65 cause multiple morphological abnormalities of sperm flagella in infertile men
24天前
已完结
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
24天前
已完结
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