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World Neurosurgery|August 22, 2020
Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported CasesMasashi Uehara, Hiroki Oba, Terue Hatakenaka, et al.Clinical Journal of Gastroenterology|March 20, 2019
Extremely young case of small bowel intussusception due to Peutz-Jeghers syndrome with nonsense mutation of STK11Tomomitsu Sado, Yoshiko Nakayama, Sawako Kato, et al.American Journal of Medical Genetics. Part A|March 26, 2014
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literatureYoko Narumi, Sachiko Nishina, Motoharu Tokimitsu, et al.American Journal of Medical Genetics. Part A|June 23, 2015
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndromeYohei Akazawa, Yuji Inaba, Akira Hachiya, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literatureMitsuo Motobayashi, Akira Nishimura-Tadaki, Yuji Inaba, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencingEri Kondo, Takafumi Nishimura, Tomoki Kosho, et al.Clinical Dysmorphology|December 1, 2007
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairmentTomoki Kosho, Satoru Sakazume, Hiroshi Kawame, et al.American Journal of Medical Genetics. Part A|July 12, 2011
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patientsKenji Shimizu, Nobuhiko Okamoto, Noriko Miyake, et al.American Journal of Medical Genetics. Part A|December 7, 2013
Surgical intervention for esophageal atresia in patients with trisomy 18Eriko Nishi, Shigeru Takamizawa, Kenji Iio, et al.Pathology International|January 6, 2026
Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz SyndromeWataru Arai, Mitsuko Furuya, Yukio Nakatani, et al.Pageof 17