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1
Examination of the Antimicrobial Peptide Myticalin A6 Active Site
Examination of the Antimicrobial Peptide Myticalin A6 Active Site
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Examination of the Antimicrobial Peptide Myticalin A6 Active Site

Okimura, Keiko ; Matsubara, Keiko ; Suzuki, Rie ; Ito, Hanako ; Sato, Ayumi ; Sugimoto, Kaori

Biological and Pharmaceutical Bulletin, 2021/04/01, Vol.44(4), pp.515-521 [Periódico revisado por pares]

Japan: The Pharmaceutical Society of Japan

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2
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Kawashima, Sayaka ; Nakamura, Akie ; Inoue, Takanobu ; Matsubara, Keiko ; Horikawa, Reiko ; Wakui, Keiko ; Takano, Kyoko ; Fukushima, Yoshimitsu ; Tatematsu, Toshi ; Mizuno, Seiji ; Tsubaki, Junko ; Kure, Shigeo ; Matsubara, Yoichi ; Ogata, Tsutomu ; Fukami, Maki ; Kagami, Masayo

The journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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3
A nationwide survey of Schaaf-Yang syndrome in Japan
A nationwide survey of Schaaf-Yang syndrome in Japan
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A nationwide survey of Schaaf-Yang syndrome in Japan

Negishi, Yutaka ; Kurosawa, Kenji ; Takano, Kyoko ; Matsubara, Keiko ; Nishiyama, Takeshi ; Saitoh, Shinji

Journal of human genetics, 2022-12, Vol.67 (12), p.735-738 [Periódico revisado por pares]

London: Nature Publishing Group

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4
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

Hara-Isono, Kaori ; Matsubara, Keiko ; Hamada, Riku ; Shimada, Shun ; Yamaguchi, Tomomi ; Wakui, Keiko ; Miyazaki, Osamu ; Muroya, Koji ; Kurosawa, Kenji ; Fukami, Maki ; Ogata, Tsutomu ; Kosho, Tomoki ; Kagami, Masayo

Journal of human genetics, 2021-11, Vol.66 (11), p.1121-1126 [Periódico revisado por pares]

England: Nature Publishing Group

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5
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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6
Collection of 2429 constrained headshots of 277 volunteers for deep learning
Collection of 2429 constrained headshots of 277 volunteers for deep learning
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Collection of 2429 constrained headshots of 277 volunteers for deep learning

Aoto, Saki ; Hangai, Mayumi ; Ueno-Yokohata, Hitomi ; Ueda, Aki ; Igarashi, Maki ; Ito, Yoshikazu ; Tsukamoto, Motoko ; Jinno, Tomoko ; Sakamoto, Mika ; Okazaki, Yuka ; Hasegawa, Fuyuki ; Ogata-Kawata, Hiroko ; Namura, Saki ; Kojima, Kazuaki ; Kikuya, Masao ; Matsubara, Keiko ; Taniguchi, Kosuke ; Okamura, Kohji

Scientific reports, 2022-03, Vol.12 (1), p.3730-3730, Article 3730 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature
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Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature

Hattori, Atsushi ; Katoh-Fukui, Yuko ; Nakamura, Akie ; Matsubara, Keiko ; Kamimaki, Tsutomu ; Tanaka, Hiroyuki ; Dateki, Sumito ; Adachi, Masanori ; Muroya, Koji ; Yoshida, Shinobu ; Ida, Shinobu ; Mitani, Marie ; Nagasaki, Keisuke ; Ogata, Tsutomu ; Suzuki, Erina ; Hata, Kenichiro ; Nakabayashi, Kazuhiko ; Matsubara, Yoichi ; Narumi, Satoshi ; Tanaka, Toshiaki ; Fukami, Maki

Endocrine Journal, 2017, Vol.64(10), pp.947-954 [Periódico revisado por pares]

Japan: The Japan Endocrine Society

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8
De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue
De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue
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De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

Matsubara, Keiko ; Yanagida, Kaede ; Nagai, Toshiro ; Kagami, Masayo ; Fukami, Maki

Frontiers in genetics, 2020-02, Vol.11, p.132-132 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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9
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors
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Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors

Matsubara, Keiko ; Murakami, Nobuyuki ; Nagai, Toshiro ; Ogata, Tsutomu

Journal of human genetics, 2011-08, Vol.56 (8), p.566-571 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Uniparental disomy as a cause of pediatric endocrine disorders
Uniparental disomy as a cause of pediatric endocrine disorders
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Uniparental disomy as a cause of pediatric endocrine disorders

Matsubara, Keiko ; Kagami, Masayo ; Fukami, Maki

Clinical Pediatric Endocrinology, 2018, Vol.27(3), pp.113-121

Japan: The Japanese Society for Pediatric Endocrinology

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