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ArticlesPeer ReviewedFull Text
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes
Author / Creator:Mariya, Tasuku ; Kato, Takema ; Sugimoto, Takeshi ; Miyai, Syunsuke ; Inagaki, Hidehito ; Ohye, Tamae ; Sugihara, Eiji ; Muramatsu, Yukako ; Mizuno, Seiji ; Kurahashi, Hiroki
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-06, Vol.67 (6), p.363-368
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ArticlesPeer ReviewedFull Text
Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital
Author / Creator:Nishida, Yoshihiro ; Ikuta, Kunihiro ; Natsume, Atsushi ; Ishihara, Naoko ; Morikawa, Maki ; Kidokoro, Hiroyuki ; Muramatsu, Yukako ; Nonobe, Norie ; Ishizuka, Kanako ; Takeichi, Takuya ; Kanbe, Miki ; Mizuno, Seiji ; Imagama, Shiro ; Ozaki, Norio
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-06, Vol.11 (1), p.11933-11933, Article 11933
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ArticlesPeer ReviewedFull Text
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
Author / Creator:Narita, Kotaro ; Muramatsu, Hideki ; Narumi, Satoshi ; Nakamura, Yuji ; Okuno, Yusuke ; Suzuki, Kyogo ; Hamada, Motoharu ; Yamaguchi, Naoya ; Suzuki, Atsushi ; Nishio, Yosuke ; Shiraki, Anna ; Yamamori, Ayako ; Tsumura, Yusuke ; Sawamura, Fumi ; Kawaguchi, Masahiro ; Wakamatsu, Manabu ; Kataoka, Shinsuke ; Kato, Kohji ; Asada, Hideyuki ; Kubota, Tetsuo ; Muramatsu, Yukako ; Kidokoro, Hiroyuki ; Natsume, Jun ; Mizuno, Seiji ; Nakata, Tomohiko ; Inagaki, Hidehito ; Ishihara, Naoko ; Yonekawa, Takahiro ; Okumura, Akihisa ; Ogi, Tomoo ; Kojima, Seiji ; Kaname, Tadashi ; Hasegawa, Tomonobu ; Saitoh, Shinji ; Takahashi, Yoshiyuki
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-08, Vol.12 (1), p.14589-14589, Article 14589
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ArticlesPeer ReviewedFull Text
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Author / Creator:Urakawa, Tatsuki ; Soejima, Hidenobu ; Yamoto, Kaori ; Hara-Isono, Kaori ; Nakamura, Akie ; Kawashima, Sayaka ; Narusawa, Hiromune ; Kosaki, Rika ; Nishimura, Yutaka ; Yamazawa, Kazuki ; Hattori, Tetsuo ; Muramatsu, Yukako ; Inoue, Takanobu ; Matsubara, Keiko ; Fukami, Maki ; Saitoh, Shinji ; Ogata, Tsutomu ; Kagami, Masayo
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2024-10, Vol.16 (1), p.138-18, Article 138
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ArticlesPeer ReviewedFull Text
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
Author / Creator:Kotani, Tomomi ; Tsuda, Hiroyuki ; Ito, Yumiko ; Nakamura, Noriyuki ; Ushida, Takafumi ; Imai, Kenji ; Iitani, Yukako ; Fuma, Kazuya ; Muramatsu, Yukako ; Hayakawa, Masahiro ; Kajiyama, Hiroaki
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2022-12, Vol.16 (1), p.481-481, Article 481
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ArticlesPeer ReviewedFull Text
Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome
Author / Creator:Hirai, Masahiro ; Muramatsu, Yukako ; Mizuno, Seiji ; Kurahashi, Naoko ; Kurahashi, Hirokazu ; Nakamura, Miho
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2016-10, Vol.8 (1), p.38-38, Article 38
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ArticlesPeer ReviewedFull Text
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Author / Creator:Sugimoto, Takeshi ; Inagaki, Hidehito ; Mariya, Tasuku ; Kawamura, Rie ; Taniguchi-Ikeda, Mariko ; Mizuno, Seiji ; Muramatsu, Yukako ; Tsuge, Ikuya ; Ohashi, Hirofumi ; Saito, Nakamichi ; Hasegawa, Yuiko ; Ochi, Nobuhiko ; Yamaguchi, Masatoshi ; Murotsuki, Jun ; Kurahashi, Hiroki
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-10, Vol.142 (10), p.1451-1460
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ArticlesPeer ReviewedFull Text
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications
Author / Creator:Kato, Takema ; Inagaki, Hidehito ; Miyai, Syunsuke ; Suzuki, Fumihiko ; Naru, Yuki ; Shinkai, Yasuko ; Kato, Asuka ; Kanyama, Kazuo ; Mizuno, Seiji ; Muramatsu, Yukako ; Yamamoto, Toshiyuki ; Shinya, Mitsuhisa ; Tazaki, Yukiko ; Hiwatashi, Sayuri ; Ikeda, Toshiro ; Ozaki, Mamoru ; Kurahashi, Hiroki
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-11, Vol.139 (11), p.1417-1427
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ArticlesPeer ReviewedFull Text
Prognosis of conventional vs. high-frequency ventilation for congenital diaphragmatic hernia: a retrospective cohort study
Author / Creator:Fuyuki, Makiko ; Usui, Noriaki ; Taguchi, Tomoaki ; Hayakawa, Masahiro ; Masumoto, Kouji ; Kanamori, Yutaka ; Amari, Shoichiro ; Yamoto, Masaya ; Urushihara, Naoto ; Inamura, Noboru ; Yokoi, Akiko ; Okawada, Manabu ; Okazaki, Tadaharu ; Toyoshima, Katsuaki ; Furukawa, Taizou ; Terui, Keita ; Ohfuji, Satoko ; Tazuke, Yuko ; Uchida, Keiichi ; Okuyama, Hiroomi
Publisher:New York: Nature Publishing Group US
Journal title:Journal of perinatology, 2021-04, Vol.41 (4), p.814-823
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ArticlesPeer ReviewedFull Text
Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking
Author / Creator:Hirai, Masahiro ; Muramatsu, Yukako ; Mizuno, Seiji ; Kurahashi, Naoko ; Kurahashi, Hirokazu ; Nakamura, Miho
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2017-03, Vol.9 (1), p.8-8, Article 8
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ArticlesPeer ReviewedFull Text
Developmental changes in mental rotation ability and visual perspective-taking in children and adults with Williams syndrome
Author / Creator:Hirai, Masahiro ; Muramatsu, Yukako ; Mizuno, Seiji ; Kurahashi, Naoko ; Kurahashi, Hirokazu ; Nakamura, Miho
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in human neuroscience, 2013-12, Vol.7, p.856-856
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Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

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Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

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Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance

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Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

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Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome

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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

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The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications

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Prognosis of conventional vs. high-frequency ventilation for congenital diaphragmatic hernia: a retrospective cohort study

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Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking

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Developmental changes in mental rotation ability and visual perspective-taking in children and adults with Williams syndrome

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