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Imoto, Daisuke, Hirabayashi, Manato, Honma, Masakatsu, Kurosawa, Kenji
Published in Journal of forensic sciences (01.03.2023)
Published in Journal of forensic sciences (01.03.2023)
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A nationwide survey of Schaaf-Yang syndrome in Japan
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Published in Journal of human genetics (01.12.2022)
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Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
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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
Published in Journal of human genetics (01.11.2021)
Published in Journal of human genetics (01.11.2021)
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CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations
Okuno, Hironobu, Renault Mihara, Francois, Ohta, Shigeki, Fukuda, Kimiko, Kurosawa, Kenji, Akamatsu, Wado, Sanosaka, Tsukasa, Kohyama, Jun, Hayashi, Kanehiro, Nakajima, Kazunori, Takahashi, Takao, Wysocka, Joanna, Kosaki, Kenjiro, Okano, Hideyuki
Published in eLife (28.11.2017)
Published in eLife (28.11.2017)
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Further delineation of SET‐related intellectual disability syndrome
Shono, Kenta, Enomoto, Yumi, Tsurusaki, Yoshinori, Kumaki, Tatsuro, Masuno, Mitsuo, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan
Takeguchi, Ryo, Takahashi, Satoru, Akaba, Yuichi, Tanaka, Ryosuke, Nabatame, Shin, Kurosawa, Kenji, Matsuishi, Toyojiro, Itoh, Masayuki
Published in Journal of the neurological sciences (15.03.2021)
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Germline mutations in HRAS proto-oncogene cause Costello syndrome
Aoki, Yoko, Niihori, Tetsuya, Kawame, Hiroshi, Kurosawa, Kenji, Ohashi, Hirofumi, Tanaka, Yukichi, Filocamo, Mirella, Kato, Kumi, Suzuki, Yoichi, Kure, Shigeo, Matsubara, Yoichi
Published in Nature genetics (01.10.2005)
Published in Nature genetics (01.10.2005)
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A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay
Ikemoto, Satoru, Hamano, Shin-ichiro, Kikuchi, Kenjiro, Koichihara, Reiko, Hirata, Yuko, Matsuura, Ryuki, Hiraide, Takuya, Nakashima, Mitsuko, Inoue, Ken, Kurosawa, Kenji, Saitsu, Hirotomo
Published in Brain & development (Tokyo. 1979) (01.09.2020)
Published in Brain & development (Tokyo. 1979) (01.09.2020)
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Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder
Abe-Hatano, Chihiro, Yokoi, Takayuki, Ida, Kazumi, Kurosawa, Kenji
Published in Molecular syndromology (01.01.2023)
Published in Molecular syndromology (01.01.2023)
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A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
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Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15
Murakami, Hiroaki, Uehara, Tomoko, Tsurusaki, Yoshinori, Enomoto, Yumi, Kuroda, Yukiko, Aida, Noriko, Kosaki, Kenjiro, Kurosawa, Kenji
Published in Brain & development (Tokyo. 1979) (01.03.2020)
Published in Brain & development (Tokyo. 1979) (01.03.2020)
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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
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Published in Annals of neurology (01.06.2019)
Published in Annals of neurology (01.06.2019)
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Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism
Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji
Published in Congenital anomalies (01.05.2021)
Published in Congenital anomalies (01.05.2021)
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