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아주대학교 의학문헌정보센터
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Showing results 7 to 13 of 13
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Title
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2022
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
손영배
2021
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
손영배
2020
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
손영배
2022
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
손영배
2022
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
손영배
2022
Updates on Paget’s Disease of Bone
손영배
,
정윤석
,
최용준
2023
Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from com-pound heterozygous mutations in the ABCC8 gene
손영배
,
이해상
,
황진순
1
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아주대학교 의학문헌정보센터
