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European Journal of Medical Genetics|July 31, 2013
A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosumMasaki Takagi, Goro Sasaki, Toshikatsu Mitsui, et al.Endocrine Journal|December 16, 2014
Fertility preservation in a family with a novel NR5A1 mutationHiroko Yagi, Masaki Takagi, Masafumi Kon, et al.Endocrine Journal|November 26, 2016
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiencyMasaki Takagi, Hotaka Kamasaki, Hiroko Yagi, et al.American Journal of Medical Genetics. Part A|April 11, 2015
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, et al.American Journal of Medical Genetics. Part A|February 4, 2012
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patientsTomoko Saito, Keisuke Nagasaki, Gen Nishimura, et al.Clinical Case Reports|December 20, 2018
An association with hypopituitarism and 9q subtelomere deletion syndromeShinji Higuchi, Masaki Takagi, Ryojun Takeda, et al.Human Genome Variation|March 8, 2017
A novel mutation in the C-propeptide of <i>COL2A1</i> causes atypical spondyloepiphyseal dysplasia congenitaChieko Kusano, Masaki Takagi, Naoaki Hori, et al.Biomacromolecules|January 11, 2005
Thermoresponsive controlled association of protein with a dynamic nanogel of hydrophobized polysaccharide and cyclodextrin: heat shock protein-like activity of artificial molecular chaperoneYuta Nomura, Yoshihiro Sasaki, Masaki Takagi, et al.Human Genome Variation|June 15, 2018
Two novel mutations of <i>COMP</i> in Japanese boys with pseudoachondroplasiaYosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, et al.Thyroid : Official Journal of the American Thyroid Association|June 9, 2018
A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8Hiroyuki Shinohara, Masaki Takagi, Kimiko Ito, et al.Pageof 4