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Author/Creator Miyake, Noriko

31. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. Issue 3 (18th January 2017)

Authors:
Takeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro
Journal:
Human mutation
Issue:
Volume 38:Issue 3(2017)
Page Start:
317
Record Type:
Journal Article
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32. Cono‐spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder. Issue 9 (26th June 2014)

Authors:
Ben‐Omran, Tawfeg; Lakhani, Shenela; Almureikhi, Mariam; Ali, Rehab; Takahashi, Atsushi; Miyake, Noriko; Matsumoto, Naomichi; Ikegawa, Shiro; Superti‐Furga, Andrea; Unger, Sheila
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 9(2014.)
Page Start:
2147
Record Type:
Journal Article
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33. Cover Image, Volume 38, Issue 3. Issue 3 (8th February 2017)

Authors:
Takeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro
Journal:
Human mutation
Issue:
Volume 38:Issue 3(2017)
Page Start:
i
Record Type:
Journal Article
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34. Cover Image, Volume 38, Issue 3. Issue 3 (March 2017)

Authors:
Takeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro
Journal:
Human mutation
Issue:
Volume 38:Issue 3(2017)
Page Start:
i
Record Type:
Journal Article
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35. Cover Image, Volume 38, Issue 6. Issue 6 (June 2017)

Authors:
Imagawa, Eri; Higashimoto, Ken; Sakai, Yasunari; Numakura, Chikahiko; Okamoto, Nobuhiko; Matsunaga, Satoko; Ryo, Akihide; Sato, Yoshinori; Sanefuji, Masafumi; Ihara, Kenji; Takada, Yui; Nishimura, Gen; Saitsu, Hirotomo; Mizuguchi, Takeshi; Miyatake, Satoko; Nakashima, Mitsuko; Miyake, Noriko; Soe...
Journal:
Human mutation
Issue:
Volume 38:Issue 6(2017)
Page Start:
i
Record Type:
Journal Article
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37. De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. (31st May 2015)

Authors:
Afifi, Hanan H.; Fukai, Ryoko; Miyake, Noriko; Gamal el Din, Amina A.; Eid, Maha M.; Eid, Ola M.; Thomas, Manal M.; El‐Badry, Tarek H.; Tosson, Angie M. S.; Abdel‐Salam, Ghada M. H.; Matsumoto, Naomichi
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 10(2015:Oct.)
Page Start:
2418
Record Type:
Journal Article
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38. De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. (31st May 2015)

Authors:
Afifi, Hanan H.; Fukai, Ryoko; Miyake, Noriko; Gamal el Din, Amina A.; Eid, Maha M.; Eid, Ola M.; Thomas, Manal M.; El‐Badry, Tarek H.; Tosson, Angie M. S.; Abdel‐Salam, Ghada M. H.; Matsumoto, Naomichi
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 10(2015:Oct.)
Page Start:
2418
Record Type:
Journal Article
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39. De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality. Issue 1 (4th August 2021)

Authors:
Sakamoto, Masamune; Sasaki, Kazunori; Sugie, Atsushi; Nitta, Yohei; Kimura, Tetsuaki; Gürsoy, Semra; Cinleti, Tayfun; Iai, Mizue; Sengoku, Toru; Ogata, Kazuhiro; Suzuki, Atsushi; Okamoto, Nobuhiko; Iwama, Kazuhiro; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohe...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 1(2022)
Page Start:
69
Record Type:
Journal Article
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40. De novo DNM1 mutations in two cases of epileptic encephalopathy. (27th November 2015)

Authors:
Nakashima, Mitsuko; Kouga, Takeshi; Lourenço, Charles Marques; Shiina, Masaaki; Goto, Tomohide; Tsurusaki, Yoshinori; Miyatake, Satoko; Miyake, Noriko; Saitsu, Hirotomo; Ogata, Kazuhiro; Osaka, Hitoshi; Matsumoto, Naomichi
Journal:
Epilepsia
Issue:
Volume 57:issue 1(2016)
Page Start:
e18
Record Type:
Journal Article
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