1. 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability. Issue 3 (19th March 2021) Authors: Ohashi, Ikuko; Kuroda, Yukiko; Enomoto, Yumi; Murakami, Hiroaki; Masuno, Mitsuo; Kurosawa, Kenji Journal: Clinical dysmorphology Issue: Volume 30:Issue 3(2021) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. Issue 6 (8th July 2015) Authors: Kawarai, Toshitaka; Tajima, Atsushi; Kuroda, Yukiko; Saji, Naoki; Orlacchio, Antonio; Terasawa, Hideo; Shimizu, Hirotaka; Kita, Yasushi; Izumi, Yuishin; Mitsui, Takao; Imoto, Issei; Kaji, Ryuji Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 6(2016) Page Start: 656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Japanese patient with RAD51‐associated Fanconi anemia. Issue 6 (25th March 2019) Authors: Takenaka, Satoshi; Kuroda, Yukiko; Ohta, Sayaka; Mizuno, Yoko; Hiwatari, Mitsuteru; Miyatake, Satoko; Matsumoto, Naomichi; Oka, Akira Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. Issue 6 (11th April 2019) Authors: Kuroda, Yukiko; Murakami, Hiroaki; Enomoto, Yumi; Tsurusaki, Yoshinori; Takahashi, Kazumi; Mitsuzuka, Kanako; Ishimoto, Hitoshi; Nishimura, Gen; Kurosawa, Kenji Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A Novel method for the simultaneous identification of methylcytosine and hydroxymethylcytosine at a single base resolution. Issue 4 (24th October 2016) Authors: Kawasaki, Yuki; Kuroda, Yukiko; Suetake, Isao; Tajima, Shoji; Ishino, Fumitoshi; Kohda, Takashi Journal: Nucleic acids research Issue: Volume 45:Issue 4(2017) Page Start: e24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel variant of ARPC4‐related neurodevelopmental disorder. Issue 3 (13th December 2022) Authors: Kuroda, Yukiko; Kumaki, Tatsuro; Saito, Yoko; Enomoto, Yumi; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Kurosawa, Kenji Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 893 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. (25th April 2015) Authors: Kuroda, Yukiko; Ohashi, Ikuko; Enomoto, Yumi; Naruto, Takuya; Baba, Naoko; Tanaka, Yukichi; Aida, Noriko; Okamoto, Nobuhiko; Niihori, Tetsuya; Aoki, Yoko; Kurosawa, Kenji Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity. Issue 6 (25th March 2014) Authors: Kuroda, Yukiko; Ohashi, Ikuko; Tominaga, Makiko; Saito, Toshiyuki; Nagai, Jun‐ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2. Issue 11 (6th August 2014) Authors: Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun‐Ichi; Ida, Kazumi; Naruto, Takuya; Wada, Takahito; Kurosawa, Kenji Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2873 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗