Ok‐Hwa Kim

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 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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 · 90 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 84 citations

Medicine, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17

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 · 51 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17