Lv21
178 积分 2025-05-23 加入
TBK1-associated motor neuron disease with concomitant vacuolar myopathy: a case resembling a multisystem proteinopathy
6天前
已关闭
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening
18天前
已完结
KCNJ16 tubulopathy presenting with recurrent acute flaccid paralysis and sensorineural hearing loss
18天前
已关闭
Role of Potassium Ion Channels in Epilepsy: Focus on Current Therapeutic Strategies
22天前
已完结
MSH4 and MSH5 variants in premature ovarian insufficiency: A literature review and case study
1个月前
已关闭
Common and Rare DUOX Variants in Patients With Congenital Hypothyroidism: Case-control Study and Family-based Analysis
1个月前
已完结
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
1个月前
已完结
Expanding clinical phenotype of truncating activation-induced cytidine deaminase variants
2个月前
已关闭
Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes
2个月前
已关闭
DDOST‐Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant
2个月前
已关闭
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