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Athanasios Evangeliou

st lukes hospital
H指数:23
被引数:2,507

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A comprehensive framework for the interpretation of TTN missense variants

TTN错义变异的全面解读框架

2026-02-260
OAAI
Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations

结节性硬化症在希腊:一项关于临床特征和罕见表现的全国队列研究

2025-10-010
PRE
Clinical research framework proposal for ketogenic metabolic therapy in glioblastoma

胶质母细胞瘤生酮代谢治疗的临床研究框架建议

2024-12-050
OAAI
Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia
2024-03-245
OAAI
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
2023-02-144
PRE
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years
2020-06-0210
OAAI
The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical manifestations in a Large Kindred
2019-10-0111
PREAI
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
BRAIN
IF11.7
2010-02-02307
OAAI
Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
2009-07-01169
OAAI