Concepedia

Ok‐Hwa Kim

OK

Statistics

Publications

13

Citations

666

H-Index

11

Active since

2010

Affiliations

Seoul National University Children's Hospital(Current)

Tokyo Metropolitan Children's Medical Center

Sungkyunkwan University

Samsung Medical Center

Ajou University Hospital

Ok‐Hwa Kim is an author at Seoul National University Children's Hospital specializing in clinical genetics, medicine, and genetics.

Top concepts

Publications per year

2010–2019

13

Publications

13

Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

Mi‐Ae Jang, Eun Kyoung Kim, Hesung Now et al. · The American Journal of Human Genetics · 2015 · 208 citations · Full text

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Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (<i>NPR2</i>) gene

Kohji Miura, Ok‐Hwa Kim, Hey Ran Lee et al. · American Journal of Medical Genetics Part A · 2013 · 89 citations · Full text

Mutations in <i>LONP1</i>, a mitochondrial matrix protease, cause CODAS syndrome

Esra Dikoglu, Ali Abdullah Alfaiz, Maria W. Górna et al. · American Journal of Medical Genetics Part A · 2015 · 81 citations

TRPV4‐pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

Tae‐Joon Cho, Kazu Matsumoto, Virginia Fano et al. · American Journal of Medical Genetics Part A · 2012 · 63 citations

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Ok‐Hwa Kim, Gen Nishimura, Hae‐Ryong Song et al. · American Journal of Medical Genetics Part A · 2010 · 50 citations

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