Lv31
242 积分 2023-09-19 加入
GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases
4小时前
待确认
Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature
1个月前
已完结
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations
1个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
1个月前
已完结
Pseudoxanthoma Elasticum-Like Phenotype With a Novel MGP Variant
1个月前
已关闭
Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies
1个月前
已关闭
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
9个月前
已关闭
Hypotonia and Poor Weight Gain in a 4-month-old Girl
10个月前
已关闭
Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases
11个月前
已完结
“Mini Molar Tooth” Sign in POLR3B‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy
11个月前
已关闭
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