Lv1
50 积分 2024-12-03 加入
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
10天前
已完结
Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation
1个月前
已完结
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9
1个月前
已完结
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
2个月前
已完结
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review
8个月前
已完结
Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients
8个月前
已完结
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX
8个月前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
9个月前
已完结
Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants
10个月前
已完结
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
10个月前
已完结
皖公网安备34019202002308
