Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing
Watanabe, Daisuke, Yagasaki, Hideaki, Narusawa, Hiromune, Saito, Tomohiro, Mitsui, Yumiko, Miyake, Kunio, Ohta, Masanori, Inukai, Takeshi
Published in Endocrine Journal (01.01.2021)
Published in Endocrine Journal (01.01.2021)
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Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
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
Published in Clinical epigenetics (05.10.2024)
Published in Clinical epigenetics (05.10.2024)
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Incidence of childhood type 1 diabetes mellitus in Yamanashi Prefecture, Japan, 1986‐2018
Saito, Tomohiro, Kobayashi, Koji, Kobayashi, Kisho, Mochizuki, Mie, Yagasaki, Hideaki, Makino, Koichi, Narusawa, Hiromune, Watanabe, Daisuke, Mitsui, Yumiko, Sato, Kazumasa, Sano, Tomoaki, Ohta, Masanori, Yokomichi, Hiroshi, Amemiya, Shin
Published in Endocrinology, diabetes & metabolism (01.04.2021)
Published in Endocrinology, diabetes & metabolism (01.04.2021)
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Journal Article
Screening of frequent variants associated with congenital hypothyroidism : a comparison with next generation sequencing
Daisuke Watanabe, Hideaki Yagasaki, Hiromune Narusawa, Tomohiro Saito, Yumiko Mitsui, Kunio Miyake, Masanori Ohta, Takeshi Inukai
Published in ENDOCRINE JOURNAL (2021)
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Published in ENDOCRINE JOURNAL (2021)
Journal Article
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome
Yagasaki, Hideaki, Sano, Fumikazu, Narusawa, Hiromune, Watanabe, Daisuke, Kaga, Yoshimi, Kobayashi, Koji, Asano, Yoshihiro, Nagata, Miho, Yonei, Ayumi, Inukai, Takeshi
Published in American journal of medical genetics. Part A (01.08.2022)
Published in American journal of medical genetics. Part A (01.08.2022)
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Journal Article
Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients
Narusawa, Hiromune, Ogawa, Tomoe, Yagasaki, Hideaki, Nagasaki, Keisuke, Urakawa, Tatsuki, Saito, Tomohiro, Soneda, Shun, Kinjo, Saori, Sano, Shinichiro, Mamada, Mitsukazu, Terashita, Shintaro, Dateki, Sumito, Narumi, Satoshi, Naiki, Yasuhiro, Horikawa, Reiko, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Published in The journal of clinical endocrinology and metabolism (26.09.2024)
Published in The journal of clinical endocrinology and metabolism (26.09.2024)
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Journal Article
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR
Urakawa, Tatsuki, Ozawa, Junichi, Tanaka, Masato, Narusawa, Hiromune, Matsuoka, Kentaro, Fukami, Maki, Nagasaki, Keisuke, Kagami, Masayo
Published in European journal of medical genetics (01.01.2023)
Published in European journal of medical genetics (01.01.2023)
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A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR
Narusawa, Hiromune, Sasaki, Sunao, Hara-Isono, Kaori, Matsubara, Keiko, Fukami, Maki, Nagasaki, Keisuke, Kagami, Masayo
Published in European journal of medical genetics (01.06.2022)
Published in European journal of medical genetics (01.06.2022)
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Journal Article
Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Yagasaki, Hideaki, Narusawa, Hiromune, Watanabe, Daisuke, Kobayashi, Koji, Mitsui, Hiroshi, Asano, Yoshihiro, Nagata, Miho, Yonei, Ayumi, Inukai, Takeshi
Published in European journal of medical genetics (01.12.2023)
Published in European journal of medical genetics (01.12.2023)
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Journal Article
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B
Urakawa, Tatsuki, Sano, Shinichiro, Kawashima, Sayaka, Nakamura, Akie, Shima, Hirohito, Ohta, Motoki, Yamada, Yuki, Nishida, Ai, Narusawa, Hiromune, Ohtsu, Yoshiaki, Matsubara, Keiko, Dateki, Sumito, Maruo, Yoshihiro, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo
Published in European journal of endocrinology (06.12.2023)
Published in European journal of endocrinology (06.12.2023)
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Journal Article
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing
Watanabe, Daisuke, Yagasaki, Hideaki, Narusawa, Hiromune, Saito, Tomohiro, Mitsui, Yumiko, Miyake, Kunio, Ohta, Masanori, Inukai, Takeshi
Published in Endocrine Journal (2021)
Published in Endocrine Journal (2021)
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Journal Article
Penetrating craniocerebral injury by chopsticks in a Japanese boy confirmed by combined brain computed tomography and magnetic resonance imaging
Narusawa, Hiromune, Koizumi, Keiichi, Sano, Fumikazu, Yagasaki, Hideaki, Nakane, Takaya
Published in Pediatrics and neonatology (01.08.2019)
Published in Pediatrics and neonatology (01.08.2019)
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Journal Article
Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency
Yagasaki, Hideaki, Ohyama, Tetsuo, Narusawa, Hiromune, Nakane, Takaya
Published in Pediatrics and neonatology (01.08.2019)
Published in Pediatrics and neonatology (01.08.2019)
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Journal Article
Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Yagasaki, Hideaki, Narusawa, Hiromune, Watanabe, Daisuke, Kobayashi, Koji, Mitsui, Hiroshi, Asano, Yoshihiro, Nagata, Miho, Yonei, Ayumi, Inukai, Takeshi
Published in European journal of medical genetics (01.12.2023)
Published in European journal of medical genetics (01.12.2023)
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Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome
Yagasaki, Hideaki, Sano, Fumikazu, Narusawa, Hiromune, Watanabe, Daisuke, Kaga, Yoshimi, Kobayashi, Koji, Asano, Yoshihiro, Nagata, Miho, Yonei, Ayumi, Inukai, Takeshi
Published in American journal of medical genetics. Part A (01.08.2022)
Published in American journal of medical genetics. Part A (01.08.2022)
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