Lv4
667 积分 2024-12-05 加入
A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein
13小时前
已完结
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
3天前
已完结
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
3天前
已完结
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands
3天前
已完结
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
10天前
已关闭
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
10天前
已完结
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
1个月前
已完结
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3‐Related Neurodevelopmental Disorder
1个月前
已完结
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays
1个月前
已完结
Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism
1个月前
已完结
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