Kohji Miura

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

Kohji Miura, Noriyuki Namba, Makoto Fujiwara et al. · PLoS ONE · 2012 · 122 citations · Full text

Sclerostin, Human Growth, Genetics +19

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

Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports

Wei Wang, Mi Hyun Song, Kohji Miura et al. · American Journal of Medical Genetics Part A · 2015 · 29 citations

A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B

Jerid W. Robinson, Deborah M. Dickey, Kohji Miura et al. · Bone · 2013 · 21 citations · Full text

Guanylyl Cyclase-b, Developmental Biology, Molecular Physiology +9

A Japanese Male Patient with Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report

Taichi Kitaoka, Noriyuki Namba, Ji Yoo Kim et al. · Clinical Pediatric Endocrinology · 2009 · 21 citations · Full text

Thumb Hypoplasia, Additional Case Report, Fatco Syndrome +12