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아주대학교 의학문헌정보센터
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Showing results 25 to 31 of 31
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Title
Author(s)
2012
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation
황진순
2011
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
김옥화
2005
Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.
김대중
,
이관우
2012
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients
김옥화
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
2019
Ufd1 phosphorylation at serine 229 negatively regulates endoplasmic reticulum-associated degradation by inhibiting the interaction of Ufd1 with VCP
이상윤
2011
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
김옥화
1
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아주대학교 의학문헌정보센터
