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Hypertension is a characteristic complication of X-linked hypophosphatemia

Endocrine Journal, 2017, Vol.64(3), pp.283-289

2017

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Use of liothyronine without levothyroxine in the treatment of mild consumptive hypothyroidism caused by hepatic hemangiomas

Endocrine Journal, 2017, Vol.64(6), pp.639-643

2017

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Comparison of susceptibility to a toxic alien toad (Bufo japonicus formosus) between predators in its native and invaded ranges

Freshwater biology, 2020-02, Vol.65 (2), p.240-252

2020

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Genetic defects in pediatric-onset adrenal insufficiency in Japan

European journal of endocrinology, 2017-08, Vol.177 (2), p.187-194

2017

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A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency

Endocrine Journal, 2017, Vol.64(2), pp.229-234

2017

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A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes

Endocrine Journal, 2016, Vol.63(4), pp.405-410

2016

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A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

Journal of human genetics, 2018-12, Vol.63 (12), p.1277-1281

2018

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Spatiotemporal distribution of Flavobacterium psychrophilum and ayu Plecoglossus altivelis in rivers revealed by environmental DNA analysis

Fisheries science, 2021-05, Vol.87 (3), p.321-330

2021

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Fertility preservation in a family with a novel NR5A1 mutation

Endocrine Journal, 2015, Vol.62(3), pp.289-295

2015

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Homozygous DUOXA2 mutation (p.Tyr138) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature

Endocrine Journal, 2017, Vol.64(8), pp.807-812

2017

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A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Clinical Pediatric Endocrinology, 2018, Vol.27(3), pp.193-196

2018

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Heterozygous defects in PAX6 gene and congenital hypopituitarism

European journal of endocrinology, 2015-01, Vol.172 (1), p.37-45

2015

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Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series

Journal of clinical medicine, 2018-11, Vol.7 (12), p.479

2018

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Cyclic intravenous pamidronate in a very low‐birthweight infant with osteogenesis imperfecta

Pediatrics international, 2018-05, Vol.60 (5), p.485-486

2018

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Molecular Basis for Hypochondroplasia in Japan

Endocrines, 2022-07, Vol.3 (3), p.428-432

2022

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Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism

PloS one, 2012-09, Vol.7 (9), p.e46008-e46008

2012

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A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

Clinical Pediatric Endocrinology, 2016, Vol.25(3), pp.107-110

2016

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A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

PloS one, 2012-05, Vol.7 (5), p.e36809-e36809

2012

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Discovery of an unrecorded population of Yamato salamander (Hynobius vandenburghi) by GIS and eDNA analysis

Environmental DNA (Hoboken, N.J.), 2019-09, Vol.1 (3), p.281-289

2019

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Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report

BMC research notes, 2018-02, Vol.11 (1), p.106-106, Article 106

2018

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A case of transient neonatal diabetes due to a novel mutation in ABCC8

Clinical Pediatric Endocrinology, 2016, Vol.25(4), pp.139-141

2016

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A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

Human genome variation, 2017-03, Vol.4 (1), p.17003-17003, Article 17003

2017

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Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

Human genome variation, 2017-04, Vol.4 (1), p.17012-17012, Article 17012

2017

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Enhancement of UV-responsive photocatalysts aided by visible-light responsive photocatalysts: Role of WO3 for H2 evolution on CuCl

Applied catalysis. B, Environmental, 2020-04, Vol.263, p.118333, Article 118333

2020

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A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2

Clinical Pediatric Endocrinology, 2015, Vol.24(3), pp.139-141

2015

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Hypertension is a characteristic complication of X-linked hypophosphatemia

Use of liothyronine without levothyroxine in the treatment of mild consumptive hypothyroidism caused by hepatic hemangiomas

Comparison of susceptibility to a toxic alien toad (Bufo japonicus formosus) between predators in its native and invaded ranges

Genetic defects in pediatric-onset adrenal insufficiency in Japan

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

Spatiotemporal distribution of Flavobacterium psychrophilum and ayu Plecoglossus altivelis in rivers revealed by environmental DNA analysis

Fertility preservation in a family with a novel NR5A1 mutation

Homozygous DUOXA2 mutation (p.Tyr138) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Heterozygous defects in PAX6 gene and congenital hypopituitarism

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series

Cyclic intravenous pamidronate in a very low‐birthweight infant with osteogenesis imperfecta

Molecular Basis for Hypochondroplasia in Japan

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

Discovery of an unrecorded population of Yamato salamander (Hynobius vandenburghi) by GIS and eDNA analysis

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report

A case of transient neonatal diabetes due to a novel mutation in ABCC8

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

Enhancement of UV-responsive photocatalysts aided by visible-light responsive photocatalysts: Role of WO3 for H2 evolution on CuCl

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2

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