Lv1
52 积分 2024-11-14 加入
A likely pathogenic homozygous frameshift variant in BLOC1S6 associated with a rare form of congenital Hermansky-Pudlak syndrome 9
4天前
已关闭
Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis
8天前
已关闭
Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency
8天前
已完结
Genetic landscape in coagulation factor XIII associated defects – Advances in coagulation and beyond
8天前
已完结
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
10天前
已完结
Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens
13天前
已完结
Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients
15天前
已完结
A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder
15天前
已完结
Computational analysis of non-synonymous single nucleotide polymorphism in UROD gene linked with familial Porphyria Cutanea Tarda
15天前
已关闭
Hereditary myopathies associated with hematological abnormalities
15天前
已完结
皖公网安备34019202002308
