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Go Hun Seo

inje university
H指数:16
被引数:1,010

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Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants

巴基斯坦队列中伴有或不伴有骨骼发育不全的家族性矮身材特征分析揭示了始祖突变以及新变异

2026-10-140
PRE
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan

遗传学研究确定了巴基斯坦近亲结婚家庭中隐性遗传中度至重度听力损失的已知和新型变异体

2026-05-050
OAAI
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

通过国际合作对罗马尼亚神经发育障碍患者进行全外显子组测序

2026-03-010
OAAI
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2

首例由YARS2基因反密码子结合域致病性变异引起的拉丁美洲MLASA2病例

2025-12-140
OAAI
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families

基因组测序在罕见病中的临床应用价值:一项1452个韩国家庭单中心研究的启示

2025-12-080
OAAI
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study

关于小于胎龄儿儿童矮身材的基因组学见解:一项韩国多中心外显子研究

2025-10-010
OAAI
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome

转录长读序列测序揭示了一个突尼斯科尔斯舒特-通茨综合征家庭中一种新型ROGDI剪接变异体的分子复杂性

2025-02-240
OAAI
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
2025-01-010
OAAI