Lv11
60 积分 2024-01-30 加入
Triple mosaic variants of PURA in a patient with multiple congenital anomalies
2小时前
求助中
Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms
18天前
已完结
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
1个月前
已完结
Chronic myelogenous leukemia
2个月前
已关闭
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus
4个月前
已完结
Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy–Walker malformation and single ventricle heart
4个月前
已完结
A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia
4个月前
已完结
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I
4个月前
已完结
Clinical and molecular characterization of patients with YWHAG‐related epilepsy
4个月前
已完结
Diagnosis and genetic testing analysis of limb-girdle muscular dystrophy type 2U caused by a compound heterozygous mutation in the ISPD gene
5个月前
已完结
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