21. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Clinical and molecular spectrum of CHOPS syndrome. Issue 7 (6th May 2019) Authors: Raible, Sarah E.; Mehta, Devanshi; Bettale, Chiara; Fiordaliso, Sarah; Kaur, Maninder; Medne, Livija; Rio, Marlene; Haan, Eric; White, Susan M.; Cusmano‐Ozog, Kristina; Nishi, Eriko; Guo, Yiran; Wu, Honglin; Shi, Xiaoqing; Zhao, Qingjie; Zhang, Xueqin; Lei, Qi; Lu, Aimei; He, Xiyu; Okamoto, Nobuhiko Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature. Issue 6 (1st May 2013) Authors: Kosho, Tomoki; Okamoto, Nobuhiko; Ohashi, Hirofumi; Tsurusaki, Yoshinori; Imai, Yoko; Hibi‐Ko, Yumiko; Kawame, Hiroshi; Homma, Tomomi; Tanabe, Saori; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Ohta, Tohru; Niikawa, Norio; Mizun... Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome. Issue 10 (5th June 2016) Authors: Miyake, Noriko; Abdel‐Salam, Ghada; Yamagata, Takanori; Eid, Maha M.; Osaka, Hitoshi; Okamoto, Nobuhiko; Mohamed, Amal M.; Ikeda, Takahiro; Afifi, Hanan H.; Piard, Juliette; van Maldergem, Lionel; Mizuguchi, Takeshi; Miyatake, Satoko; Tsurusaki, Yoshinori; Matsumoto, Naomichi Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Clinical features, diagnostic criteria, and management of Coffin–Siris syndrome. Issue 3 (28th August 2014) Authors: Vergano, Samantha S.; Deardorff, Matthew A.; Kosho, Tomoki; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 166:Issue 3(2014) Page Start: 252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Clinical significance of SARS‐CoV‐2‐specific IgG detection with a rapid antibody kit for COVID‐19 patients. Issue 1 (10th September 2020) Authors: Chong, Yong; Ikematsu, Hideyuki; Tani, Naoki; Arimizu, Yoko; Watanabe, Haruka; Fukamachi, Yukako; Yonekawa, Akiko; Iwasaka, Sho; Nishida, Ruriko; Eriguchi, Yoshihiro; Miyake, Noriko; Shimoda, Shinji; Nagasaki, Yoji; Shimono, Nobuyuki; Akashi, Koichi Journal: Influenza and other respiratory viruses Issue: Volume 15:Issue 1(2021) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Issue 7 (26th April 2013) Authors: Kato, Mitsuhiro; Yamagata, Takanori; Kubota, Masaya; Arai, Hiroshi; Yamashita, Sumimasa; Nakagawa, Taku; FujII, Takanari; Sugai, Kenji; Imai, Kaoru; Uster, Tami; Chitayat, David; Weiss, Shelly; Kashii, Hirofumi; Kusano, Ryosuke; Matsumoto, Ayumi; Nakamura, Kazuyuki; Oyazato, Yoshinobu; Maeno, Mar... Journal: Epilepsia Issue: Volume 54:Issue 7(2013:Jul.) Page Start: 1282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing. Issue 3 (28th August 2014) Authors: Kosho, Tomoki; Miyake, Noriko; Carey, John C.; Kosho, Tomoki; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 166:Issue 3(2014) Page Start: 241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. COG1‐congenital disorders of glycosylation: Milder presentation and review. Issue 3 (13th May 2021) Authors: Salazar, Marne; Miyake, Noriko; Silva, Sebastián; Solar, Benjamín; Papazoglu, Gabriela M.; Asteggiano, Carla G.; Matsumoto, Naomichi Journal: Clinical genetics Issue: Volume 100:Issue 3(2021) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗