Ok-hwa B. Kim

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 45 publications

Recombinant N-terminal Fragment of Human Vitronectin Promotes Osteoblast Adhesive Responses via αvβ3 and αvβ5 Integrins.

Recombinant N-terminal Fragment of Human Vitronectin Promotes Osteoblast Adhesive Responses via αvβ3 and αvβ5 Integrins.

Journal: Journal of biomedical materials research. Part A

Published: March 07, 2026

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.

Journal: European journal of medical genetics

Published: July 04, 2023

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: March 03, 2020

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Journal: American journal of medical genetics. Part A

Published: August 27, 2019

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.

Journal: BMC medical genetics

Published: October 31, 2018

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Journal: American journal of human genetics

Published: August 10, 2018

Autosomal dominant brachyolmia: transient metaphyseal striations.

Autosomal dominant brachyolmia: transient metaphyseal striations.

Journal: Skeletal radiology

Published: March 28, 2017

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Journal: Brain & development

Published: February 07, 2017

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Journal: American journal of medical genetics. Part A

Published: July 01, 2016

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

Journal: Annals of clinical and laboratory science

Published: June 18, 2016

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Journal: American journal of medical genetics. Part A

Published: May 25, 2016

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Journal: American journal of human genetics

Published: December 19, 2015

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Last Updated: 09/26/2026