Lv54
1200 积分 2022-07-11 加入
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120
6天前
已完结
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
6天前
已完结
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis
6天前
已完结
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia
17天前
已完结
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review
2个月前
已完结
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor
2个月前
已关闭
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
2个月前
已完结
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
2个月前
已完结
Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4
2个月前
已关闭
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
2个月前
已完结
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