1. A Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome with a KAT6B 10‐base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. (May 2017) Authors: Niida, Yo; Mitani, Yusuke; Kuroda, Mondo; Yokoi, Ayano; Nakagawa, Hiroyasu; Kato, Akiko Journal: Congenital anomalies Issue: Volume 57:Number 3(2017) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex. (February 2019) Authors: Kondo, Takeshi; Niida, Yo; Mizuguchi, Masashi; Nagasaki, Yasushi; Ueno, Yasuhiro; Nishimura, Akiyoshi Journal: Legal medicine Issue: Volume 36(2019) Page Start: 37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cartilage‐hair hypoplasia associated with isolated hypoganglionosis: A case report. (January 2017) Authors: Yasui, Yoshitomo; Kohno, Miyuki; Nishida, Syouichi; Shironomae, Tsubasa; Satomi, Miwa; Kuwahara, Tsuyoshi; Takahashi, Sadayoshi; Niida, Yo Journal: Congenital anomalies Issue: Volume 57:Number 1(2017) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex. (February 2018) Authors: Ishikawa, Hidehiro; Niwa, Atsushi; Asahi, Masaru; Matsuura, Keita; Masuzugawa, Satoshi; Niida, Yo; Maeda, Masayuki; Kondo, Mineo; Tomimoto, Hidekazu Journal: Journal of clinical neuroscience Issue: Volume 48(2018) Page Start: 108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Effective Prophylaxis Against Various Adverse Events from Mitochondrial Cytochrome b Gene Mutation Triggered by Transplant‐Related Chemotherapy and Immunosuppressants. Issue 2 (14th July 2015) Authors: Araki, Raita; Nishimura, Ryosei; Mase, Shintaro; Fujiki, Toshihiro; Kuroda, Rie; Maeba, Hideaki; Koizumi, Shoichi; Yachie, Akihiro; Niida, Yo Journal: Pediatric blood & cancer Issue: Volume 63:Issue 2(2016) Page Start: 374 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions. Issue 11 (16th June 2015) Authors: Hatta, Naohito; Takata, Akiko; Ishizawa, Shin; Niida, Yo Journal: Journal of dermatology Issue: Volume 42:Issue 11(2015) Page Start: 1087 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis. (11th April 2022) Authors: Kato, Hajime; Ansh, Anenya J; Lester, Ethan R; Kinoshita, Yuka; Hidaka, Naoko; Hoshino, Yoshitomo; Koga, Minae; Taniguchi, Yuki; Uchida, Taisuke; Yamaguchi, Hideki; Niida, Yo; Nakazato, Masamitsu; Nangaku, Masaomi; Makita, Noriko; Takamura, Toshinari; Saito, Taku; Braddock, Demetrios T; Ito, Nobuaki Journal: Journal of bone and mineral research Issue: Volume 37:Number 6(2022) Page Start: 1125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Intermittent X‐linked thrombocytopenia with a novel WAS gene mutation. Issue 4 (21st September 2013) Authors: Wada, Taizo; Itoh, Masatsune; Maeba, Hideaki; Toma, Tomoko; Niida, Yo; Saikawa, Yutaka; Yachie, Akihiro Journal: Pediatric blood & cancer Issue: Volume 61:Issue 4(2014:Apr.) Page Start: 746 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia. (2nd January 2020) Authors: Ishijima, Yuka; Iizuka, Takashi; Kagami, Kyosuke; Masumoto, Sakiko; Nakade, Kyohei; Mitani, Yusuke; Niida, Yo; Watanabe, Atsushi; Yamazaki, Rena; Ono, Masanori; Fujiwara, Hiroshi Journal: Journal of obstetrics and gynaecology Issue: Volume 40:Number 1(2020) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex. (2021) Authors: Shoji, Tetsuaki; Niida, Yo; Osawa, Takahiro; Matsumoto, Ryuji; Sakurai, Kotaro; Suzuki, Masaru; Matsuno, Yoshihiro; Konno, Satoshi Journal: Respiratory medicine case reports Issue: Volume 34(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗