Koji Muroya

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Ercole Rao, Maki Fukami, Andreas Rump et al. · Nature Genetics · 1997 · 943 citations

Developmental Anomaly, Pseudoautosomal Deletions, Developmental Biology +9

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

Erik A. Imel, Francis H. Glorieux, Michael P. Whyte et al. · The Lancet · 2019 · 347 citations · Full text

X-linked Hypophosphataemia, Pediatric Hematology, Hematology +2

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Satoshi Narumi, Naoko Amano, Tomohiro Ishii et al. · Nature Genetics · 2016 · 321 citations

Mendelian Disorder, Genetic Disorder, Mirage Syndrome +9

Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

Tomoki Kosho, Koji Muroya, Toshiro Nagai et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 172 citations · Full text

Growth Patterns, Genetics, Pathology +18

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Koji Muroya, Tomonobu Hasegawa, Yoshiya Ito et al. · Journal of Medical Genetics · 2001 · 162 citations · Full text

Mendelian Disorder, Hdr Syndrome, Genetic Disorder +10