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Author/Creator Ida, Kazumi

3. Delineation of the KIAA2022 mutation phenotype: Two patients with X‐linked intellectual disability and distinctive features. (21st April 2015)

Authors:
Kuroda, Yukiko; Ohashi, Ikuko; Naruto, Takuya; Ida, Kazumi; Enomoto, Yumi; Saito, Toshiyuki; Nagai, Jun‐ichi; Wada, Takahito; Kurosawa, Kenji
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1349
Record Type:
Journal Article
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4. Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. Issue 3 (4th January 2022)

Authors:
Enomoto, Yumi; Yokoi, Takayuki; Tsurusaki, Yoshinori; Murakami, Hiroaki; Tominaga, Makiko; Minatogawa, Mari; Abe‐Hatano, Chihiro; Kuroda, Yukiko; Ohashi, Ikuko; Ida, Kazumi; Shiiya, Shizuka; Kumaki, Tatsuro; Naruto, Takuya; Mitsui, Jun; Harada, Noriaki; Kido, Yasuhiro; Kurosawa, Kenji
Journal:
Clinical genetics
Issue:
Volume 101:Issue 3(2022)
Page Start:
335
Record Type:
Journal Article
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7. Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome. Issue 4 (22nd May 2017)

Authors:
Shimbo, Hiroko; Yokoi, Takayuki; Aida, Noriko; Mizuno, Seiji; Suzumura, Hiroshi; Nagai, Junichi; Ida, Kazumi; Enomoto, Yumi; Hatano, Chihiro; Kurosawa, Kenji
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 4(2017)
Page Start:
429
Record Type:
Journal Article
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9. Refinement of the deletion in 8q22.2–q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy. Issue 8 (6th May 2014)

Authors:
Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun‐ichi; Ida, Kazumi; Naruto, Takuya; Iai, Mizue; Kurosawa, Kenji
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 8(2014.)
Page Start:
2104
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗