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Hormone Research in Paediatrics|January 25, 2014
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformationMasaki Takagi, Satoshi Narumi, Yumi Asakura, et al.
Human Genome Variation|October 30, 2016
Novel heterozygous mutation in the extracellular domain of <i>FGFR1</i> associated with Hartsfield syndromeMasaki Takagi, Tatsuya Miyoshi, Yuka Nagashima, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 11, 2012
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidneyYuki Abe, Takashi Sato, Masaki Takagi, et al.
Endocrine Journal|January 20, 2016
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypesMasaki Takagi, Mai Takahashi, Yoshiaki Ohtsu, et al.
Congenital Anomalies|November 28, 2012
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomographyYoshika Akizawa, Gen Nishimura, Tomonobu Hasegawa, et al.
American Journal of Medical Genetics. Part A|February 13, 2017
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiencyMasaki Takagi, Kazushige Dobashi, Keiko Nagahara, et al.
Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society|April 23, 2013
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiencyAkiko Soneda, Masanori Adachi, Koji Muroya, et al.
European Journal of Medical Genetics|August 16, 2017
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplasticaRyojun Takeda, Masaki Takagi, Hiroyuki Shinohara, et al.
Endocrine Journal|June 20, 2017
Homozygous DUOXA2 mutation (p.Tyr138<sup>*</sup>) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literatureChiho Sugisawa, Shinji Higuchi, Masaki Takagi, et al.
American Journal of Medical Genetics. Part A|February 26, 2015
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndromeYoshie Nakamura, Masaki Takagi, Hiroshi Yoshihashi, et al.
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