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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Kagami, Masayo ; Nagasaki, Keisuke ; Kosaki, Rika ; Horikawa, Reiko ; Naiki, Yasuhiro ; Saitoh, Shinji ; Tajima, Toshihiro ; Yorifuji, Tohru ; Numakura, Chikahiko ; Mizuno, Seiji ; Nakamura, Akie ; Matsubara, Keiko ; Fukami, Maki ; Ogata, Tsutomu

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366 [Periódico revisado por pares]

Nature Publishing Group

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2
Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome
Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome
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Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

Binder, Gerhard ; Nakamura, Akie ; Schweizer, Roland ; Ogata, Tsutomu ; Fukami, Maki ; Nagasaki, Keisuke

The journal of clinical endocrinology and metabolism, 2021-05, Vol.106 (5), p.1491-1500 [Periódico revisado por pares]

US: Oxford University Press

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3
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan
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Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Yatsuga, Shuichi ; Amano, Naoko ; Nakamura-Utsunomiya, Akari ; Kobayashi, Hironori ; Takasawa, Kei ; Nagasaki, Keisuke ; Nakamura, Akie ; Nishigaki, Satsuki ; Numakura, Chikahiko ; Fujiwara, Ikuma ; Minamitani, Kanshi ; Hasegawa, Tomonobu ; Tajima, Toshihiro

Endocrine Journal, 2020, Vol.67(8), pp.853-857 [Periódico revisado por pares]

Japan: The Japan Endocrine Society

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4
Clinical features and molecular basis of pseudohypoaldosteronism type 1
Clinical features and molecular basis of pseudohypoaldosteronism type 1
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Clinical features and molecular basis of pseudohypoaldosteronism type 1

Tajima, Toshihiro ; Morikawa, Shuntaro ; Nakamura, Akie

Clinical Pediatric Endocrinology, 2017, Vol.26(3), pp.109-117

Japan: The Japanese Society for Pediatric Endocrinology

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5
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
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Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

Fuke, Tomoko ; Nakamura, Akie ; Inoue, Takanobu ; Kawashima, Sayaka ; Hara, Kaori Isono ; Matsubara, Keiko ; Sano, Shinichiro ; Yamazawa, Kazuki ; Fukami, Maki ; Ogata, Tsutomu ; Kagami, Masayo

The journal of clinical endocrinology and metabolism, 2021-03, Vol.106 (3), p.802-813 [Periódico revisado por pares]

US: Oxford University Press

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6
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)
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Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Nagasaki, Keisuke ; Minamitani, Kanshi ; Nakamura, Akie ; Kobayashi, Hironori ; Numakura, Chikahiko ; Itoh, Masatsune ; Mushimoto, Yuichi ; Fujikura, Kaori ; Fukushi, Masaru ; Tajima, Toshihiro

Clinical Pediatric Endocrinology, 2023, Vol.32(1), pp.26-51

Japan: The Japanese Society for Pediatric Endocrinology

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7
A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]
A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]
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A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

Tajima, Toshihiro ; Nakamura, Akie ; Ishizu, Katsura

Endocrine Journal, 2013, Vol.60(2), pp.245-249 [Periódico revisado por pares]

Japan: The Japan Endocrine Society

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8
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes

Hattori, Atsushi ; Seki, Atsuhito ; Inaba, Naoto ; Nakabayashi, Kazuhiko ; Takeda, Kazue ; Tatsusmi, Kuniko ; Naiki, Yasuhiro ; Nakamura, Akie ; Ishiwata, Keisuke ; Matsumoto, Kenji ; Nasu, Michiyo ; Okamura, Kohji ; Michigami, Toshimi ; Katoh-Fukui, Yuko ; Umezawa, Akihiro ; Ogata, Tsutomu ; Kagami, Masayo ; Fukami, Maki

Scientific reports, 2024-04, Vol.14 (1), p.8069-8069, Article 8069 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
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Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Kagami, Masayo ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Nakamura, Akie ; Sano, Shinichiro ; Okamura, Kohji ; Hata, Kenichiro ; Fukami, Maki ; Ogata, Tsutomu

Genetics in medicine, 2017-04, Vol.19 (4), p.476-482 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Novel insight into nicotinamide adenine dinucleotide and related metabolites in cancer patients undergoing surgery
Novel insight into nicotinamide adenine dinucleotide and related metabolites in cancer patients undergoing surgery
Material Type:
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Novel insight into nicotinamide adenine dinucleotide and related metabolites in cancer patients undergoing surgery

Fujita, Hiroaki ; Wakiya, Taiichi ; Tatara, Yota ; Ishido, Keinosuke ; Sakamoto, Yoshiyuki ; Kimura, Norihisa ; Morohashi, Hajime ; Miura, Takuya ; Muroya, Takahiro ; Akasaka, Harue ; Yokoyama, Hiroshi ; Kanda, Taishu ; Kubota, Shunsuke ; Ichisawa, Aika ; Ogasawara, Kenta ; Kuwata, Daisuke ; Takahashi, Yoshiya ; Nakamura, Akie ; Yamazaki, Keisuke ; Yamada, Takahiro ; Matsuyama, Ryo ; Kanou, Masanobu ; Yamana, Kei ; Itoh, Ken ; Hakamada, Kenichi

Scientific reports, 2024-07, Vol.14 (1), p.16557-11, Article 16557 [Periódico revisado por pares]

London: Nature Publishing Group

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