Chi Hwa Kim

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

Su Jin Kim, Tadeusz Biegański, Young Bae Sohn et al. · Human Genetics · 2011 · 87 citations

Medicine, Genetics, Molecular Genetics +14

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis

Tadashi Kaname, Chang‐Seok Ki, Norio Niikawa et al. · Cellular Signalling · 2014 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Characterization of a Novel Mucopolysaccharidosis Type II Mouse Model and Recombinant AAV2/8 Vector-Mediated Gene Therapy

Sung‐Chul Jung, Eun Sook Park, Eun Nam Choi et al. · Molecules and Cells · 2010 · 39 citations

Medicine, Molecular Genetics, Molecular Medicine +4

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome

Yo Kyung Chung, Young Bae Sohn, Jong Mun Sohn et al. · Glycoconjugate Journal · 2014 · 29 citations

Life Sciences, Biochemistry, Biotechnology +14

<i>LIN28B</i>polymorphisms are associated with central precocious puberty and early puberty in girls

Sung Won Park, Seung‐Tae Lee, Young Bae Sohn et al. · Korean Journal of Pediatrics · 2012 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14