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66 积分 2025-02-28 加入
Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls
10小时前
已完结
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
15小时前
已完结
Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes
1天前
已关闭
Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment
1天前
已完结
Genetic Analysis and Reporting from Whole-Exome Sequencing Data in 1052 Patients with Intellectual Disability
3天前
已关闭
Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects
6天前
已完结
Clinical exome sequencing identifies a novel variant in SCN1A gene in a Moroccan patient with Dravet syndrome
6天前
已关闭
A Screening test for the prediction of Dravet syndrome before one year of age
7天前
已关闭
The spectrum of SCN1A-related infantile epileptic encephalopathies
7天前
已完结
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