Lv11
82 积分 2022-06-21 加入
Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations
5小时前
已关闭
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients
15天前
已完结
Achromatopsia Showing Compound Heterozygous Mutations in ATF6 by Whole Exome Sequencing: A Rare Case Report
20天前
已关闭
Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review
20天前
已完结
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
1个月前
已完结
Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians
2个月前
已完结
Intracranial venous malformation masquerading as a meningioma in PI3KCA‐related overgrowth spectrum disorder
2个月前
已完结
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
2个月前
已完结
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
3个月前
已完结
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
3个月前
已完结
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