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Author/Creator Mizuguchi, T.

2. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome. Issue 4 (4th October 2017)

Authors:
Miyake, N.; Ozasa, S.; Mabe, H.; Kimura, S.; Shiina, M.; Imagawa, E.; Miyatake, S.; Nakashima, M.; Mizuguchi, T.; Takata, A.; Ogata, K.; Matsumoto, N.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 4(2018)
Page Start:
929
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Confirmation of SLC5A7‐related distal hereditary motor neuropathy 7 in a family outside Wales. Issue 2 (21st May 2018)

Authors:
Hamanaka, K.; Takahashi, K.; Miyatake, S.; Mitsuhashi, S.; Hamanoue, H.; Miyaji, Y.; Fukai, R.; Doi, H.; Fujita, A.; Imagawa, E.; Iwama, K.; Nakashima, M.; Mizuguchi, T.; Takata, A.; Miyake, N.; Takeuchi, H.; Tanaka, F.; Matsumoto, N.
Journal:
Clinical genetics
Issue:
Volume 94:Issue 2(2018)
Page Start:
274
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. 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) ↗

6. Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy. Issue 2 (18th September 2017)

Authors:
Tsuchida, N.; Nakashima, M.; Miyauchi, A.; Yoshitomi, S.; Kimizu, T.; Ganesan, V.; Teik, K.W.; Ch'ng, G.‐S.; Kato, M.; Mizuguchi, T.; Takata, A.; Miyatake, S.; Miyake, N.; Osaka, H.; Yamagata, T.; Nakajima, H.; Saitsu, H.; Matsumoto, N.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 2(2018)
Page Start:
266
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗