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1 . Academic Journal
Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia
저자
by
Keiichi Ozono
;
Shinji Takeyari
;
Taichi Kitaoka
;
Takuo Kubota
;
Yasuhisa Ohata
, et al.
소스
Endocrine Journal. 2023, 70(4):435
Open Access (JSTAGE)
Web of Science
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7 . Academic Journal
A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4
저자
by
Keiichi Ozono
;
Kenichi Yamamoto
;
Makoto Fujiwara
;
Miho Nagata
;
Shinji Takeyari
, et al.
소스
Clinical Pediatric Endocrinology. 2023, 32(2):105
Open Access (JSTAGE)
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7 . Academic Journal
Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study.
저자
by
Yasuhisa Ohata
;
Taichi Kitaoka
;
Takeshi Ishimi
;
Chieko Yamada
;
Yukako Nakano
, et al.
소스
PLoS ONE, Vol 18, Iss 8, p e0290812 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series
저자
by
Yoshinori Satomura
;
Kazuhiko Bessho
;
Nobutoshi Nawa
;
Hidehito Kondo
;
Shogo Ito
, et al.
소스
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
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7 . Academic Journal
Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families
저자
by
Yasuhisa Ohata
;
Haruna Kakimoto
;
Yuko Seki
;
Yasuki Ishihara
;
Yukako Nakano
, et al.
소스
Bone Reports, Vol 17, Iss , Pp 101637- (2022)
Full Text (ScienceDirect)
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7 . Academic Journal
Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study
저자
by
Akiko Ajimi
;
Hiroshi Kitoh
;
Keiichi Ozono
;
Kenichi Mishima
;
Masaki Matsushita
, et al.
소스
Clinical Pediatric Endocrinology. 2022, 31(1):18
Open Access (JSTAGE)
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7 . Academic Journal
A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta
저자
by
Chieko Yamada
;
Hirofumi Nakayama
;
Keiichi Ozono
;
Kenichi Yamamoto
;
Makoto Fujiwara
, et al.
소스
Clinical Pediatric Endocrinology. 2022, 31(3):205
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7 . Academic Journal
Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets
저자
by
Eri Kijima
;
Katsusuke Yamamoto
;
Keiichi Ozono
;
Masashi Mukai
;
Shinji Takeyari
, et al.
소스
Endocrine Journal. 2021, 68(7):807
Open Access (JSTAGE)
Web of Science
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7 . Academic Journal
Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia
저자
by
Hiroshi Kitoh
;
Keiichi Ozono
;
Kenichi Mishima
;
Masaki Matsushita
;
Nobuhiko Haga
, et al.
소스
Progress in Rehabilitation Medicine. 2021, 6:20210048
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7 . Academic Journal
Clinical Practice Guidelines for Achondroplasia*
저자
by
Hiroshi Mochizuki
;
Keiichi Ozono
;
Kosei Hasegawa
;
Makoto Fujiwara
;
Masanori Adachi
, et al.
소스
Clinical Pediatric Endocrinology. 2020, 29(1):25
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