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Author/Creator Saitsu, H.

4. Coffin–Siris syndrome is a SWI/SNF complex disorder. (23rd July 2013)

Authors:
Tsurusaki, Y.; Okamoto, N.; Ohashi, H.; Mizuno, S.; Matsumoto, N.; Makita, Y.; Fukuda, M.; Isidor, B.; Perrier, J.; Aggarwal, S.; Dalal, A.B.; Al‐Kindy, A.; Liebelt, J.; Mowat, D.; Nakashima, M.; Saitsu, H.; Miyake, N.; Matsumoto, N.
Journal:
Clinical genetics
Issue:
Volume 85:Number 6(2014:Jun.)
Page Start:
548
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. (29th April 2014)

Authors:
Nakajima, J.; Okamoto, N.; Tohyama, J.; Kato, M.; Arai, H.; Funahashi, O.; Tsurusaki, Y.; Nakashima, M.; Kawashima, H.; Saitsu, H.; Matsumoto, N.; Miyake, N.
Journal:
Clinical genetics
Issue:
Volume 87:Number 4(2015:Apr.)
Page Start:
356
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations. Issue 1 (14th April 2015)

Authors:
Miyake, N.; Tsurusaki, Y.; Koshimizu, E.; Okamoto, N.; Kosho, T.; Brown, N.J.; Tan, T.Y.; Yap, P.J.J.; Suzumura, H.; Tanaka, T.; Nagai, T.; Nakashima, M.; Saitsu, H.; Niikawa, N.; Matsumoto, N.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 1(2016)
Page Start:
115
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Detection of copy number variations in epilepsy using exome data. Issue 3 (25th January 2018)

Authors:
Tsuchida, N.; Nakashima, M.; Kato, M.; Heyman, E.; Inui, T.; Haginoya, K.; Watanabe, S.; Chiyonobu, T.; Morimoto, M.; Ohta, M.; Kumakura, A.; Kubota, M.; Kumagai, Y.; Hamano, S.‐I.; Lourenco, C.M.; Yahaya, N.A.; Ch'ng, G.‐S.; Ngu, L.‐H.; Fattal‐Valevski, A.; Weisz Hubshman, M.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 3(2018)
Page Start:
577
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Different X‐linked KDM5C mutations in affected male siblings: is maternal reversion error involved?. Issue 3 (23rd March 2016)

Authors:
Fujita, A.; Waga, C.; Hachiya, Y.; Kurihara, E.; Kumada, S.; Takeshita, E.; Nakagawa, E.; Inoue, K.; Miyatake, S.; Tsurusaki, Y.; Nakashima, M.; Saitsu, H.; Goto, Y.‐i.; Miyake, N.; Matsumoto, N.
Journal:
Clinical genetics
Issue:
Volume 90:Issue 3(2016)
Page Start:
276
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

10. DNM1L‐related encephalopathy in infancy with Leigh syndrome‐like phenotype and suppression‐burst. Issue 5 (14th June 2016)

Authors:
Zaha, K.; Matsumoto, H.; Itoh, M.; Saitsu, H.; Kato, K.; Kato, M.; Ogata, S.; Murayama, K.; Kishita, Y.; Mizuno, Y.; Kohda, M.; Nishino, I.; Ohtake, A.; Okazaki, Y.; Matsumoto, N.; Nonoyama, S.
Journal:
Clinical genetics
Issue:
Volume 90:Issue 5(2016)
Page Start:
472
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗