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아주대학교 의학문헌정보센터
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Showing results 1 to 5 of 5
Pub Year
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AJOU Author(s)
2013
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
정윤석
,
진현석
2014
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
손영배
2015
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
손영배
2014
Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
이기영
,
임신영
,
정선용
2012
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence
손영배
1
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아주대학교 의학문헌정보센터
