| Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome N Miyake, T Kosho, S Mizumoto, T Furuichi, A Hatamochi, Y Nagashima, ... Human mutation 31 (8), 966-974, 2010 | 168 | 2010 |
| A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related … T Kosho, N Miyake, A Hatamochi, J Takahashi, H Kato, T Miyahara, ... American Journal of Medical Genetics Part A 152 (6), 1333-1346, 2010 | 97 | 2010 |
| A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1 Y Chunshu, K Endoh, M Soutome, R Kawamura, T Kubota Clinical genetics 70 (6), 530-531, 2006 | 32 | 2006 |
| Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36 S Saito, R Kawamura, T Kosho, T Shimizu, K Aoyama, K Koike, T Wada, ... American Journal of Medical Genetics Part A 146 (22), 2891-2897, 2008 | 31 | 2008 |
| High-energy, nanosecond pulsed Cr: CdSe laser with a 2.25–3.08 μm tuning range for laser biomaterial processing M Yumoto, N Saito, T Lin, R Kawamura, A Aoki, Y Izumi, S Wada Biomedical Optics Express 9 (11), 5645-5653, 2018 | 30 | 2018 |
| Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B Y Muramatsu, T Kosho, M Magota, T Yokotsuka, M Ito, A Yasuda, O Kito, ... American Journal of Medical Genetics Part A 152 (2), 417-421, 2010 | 28 | 2010 |
| Genital abnormalities in Pallister–Hall syndrome: report of two patients and review of the literature Y Narumi, T Kosho, G Tsuruta, M Shiohara, E Shimazaki, T Mori, ... American journal of medical genetics Part A 152 (12), 3143-3147, 2010 | 27 | 2010 |
| CTCF deletion syndrome: clinical features and epigenetic delineation I Hori, R Kawamura, K Nakabayashi, H Watanabe, K Higashimoto, ... Journal of Medical Genetics 54 (12), 836-842, 2017 | 26 | 2017 |
| Transition from antiferromagnetic Kondo metal to mixed valence semiconductor in Ce (Pt1− xNix) Sn J Sakurai, R Kawamura, T Taniguchi, S Nishigori, S Ikeda, H Goshima, ... Journal of Magnetism and Magnetic Materials 104, 1415-1417, 1992 | 25 | 1992 |
| A case of a parthenogenetic 46, XX/46, XY chimera presenting ambiguous genitalia R Kawamura, T Kato, S Miyai, F Suzuki, Y Naru, M Kato, K Tanaka, ... Journal of human genetics 65 (8), 705-709, 2020 | 22 | 2020 |
| Evaluation of a high-speed but low-throughput RT-qPCR system for detection of SARS-CoV-2 J Sakai, N Tarumoto, Y Orihara, R Kawamura, M Kodana, N Matsuzaki, ... Journal of Hospital Infection 105 (4), 615-618, 2020 | 20 | 2020 |
| Ex Vivo Evaluation of Gingival Ablation with Various Laser Systems and Electroscalpel R Kawamura, K Mizutani, T Lin, S Kakizaki, A Mimata, K Watanabe, ... Photobiomodulation, Photomedicine, and Laser Surgery 38 (6), 364-373, 2020 | 20 | 2020 |
| PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review T Yamaguchi, K Takano, Y Inaba, M Morikawa, M Motobayashi, ... American Journal of Medical Genetics Part A 179 (6), 948-957, 2019 | 20 | 2019 |
| Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration K Takano, K Goto, M Motobayashi, K Wakui, R Kawamura, T Yamaguchi, ... European journal of medical genetics 60 (10), 521-526, 2017 | 20 | 2017 |
| Studies Concerning the Virus of Epidemic Encephalitis, Japanese Type. R Kawamura, M Kodama, T Ito, T Yasaki, Y Kobayakawa Kitasato Archives of Experimental Medicine 13, 281-323, 1936 | 18 | 1936 |
| Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation M Yamazaki, T Kosho, S Kawachi, M Mikoshiba, J Takahashi, R Sano, ... American Journal of Medical Genetics Part A 152 (3), 764-769, 2010 | 17 | 2010 |
| Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment E Nishi, M Takasugi, R Kawamura, S Shibuya, S Takamizawa, T Hiroma, ... American Journal of Medical Genetics Part A 176 (9), 1941-1949, 2018 | 16 | 2018 |
| Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization R Kawamura, H Tanabe, T Wada, S Saitoh, Y Fukushima, K Wakui Chromosome research 20, 659-672, 2012 | 16 | 2012 |
| Peripartum iliac arterial aneurysm and rupture in a patient with vascular Ehlers-Danlos syndrome diagnosed by next-generation sequencing N Koitabashi, T Yamaguchi, D Fukui, T Nakano, A Umeyama, K Toda, ... International heart journal 59 (5), 1180-1185, 2018 | 13 | 2018 |
| Epidemic Encephalitis in Japan: the Causative Agent Compared with that in the St. Louis Epidemic. R Kawamura, M Kodama, T Ito, T Yasaki, Y Kobayakawa Arch. Pathol. 22, 510-23, 1936 | 10 | 1936 |
