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Journal of Biomedical Science|April 30, 2013
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the proteinHiroko Terui, Kiwamu Akagi, Hiroshi Kawame, et al.Birth Defects Research|September 9, 2023
Real-world prevalence, time of diagnosis, and co-occurrence patterns of birth defects in live-born infants, 2014-2020: A health administrative database study in JapanTomofumi Ishikawa, Hiroshi Kawame, Nariyasu Mano, et al.Journal of Genetic Counseling|March 20, 2015
Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in JapanMikiko Kaneko, Hirofumi Ohashi, Tomoko Takamura, et al.American Journal of Medical Genetics. Part A|June 24, 2004
Elevated catecholamine metabolites in patients with Costello syndromeKaren W Gripp, Hiroshi Kawame, David H Viskochil, et al.American Journal of Medical Genetics. Part A|March 11, 2006
Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatmentTomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame, et al.American Journal of Medical Genetics|February 22, 2002
Patellar dislocation in Kabuki syndromeKenji Kurosawa, Hiroshi Kawame, Yukikatsu Ochiai, et al.Journal of Human Genetics|September 7, 2018
A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshopKayono Yamamoto, Atsushi Shimizu, Fumie Aizawa, et al.Journal of Human Genetics|October 3, 2022
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testingKana Hiromoto, Takahiro Yamada, Mio Tsuchiya, et al.Congenital Anomalies|March 26, 2024
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in JapanKana Hiromoto, Takahiro Yamada, Mio Tsuchiya, et al.Taiwanese Journal of Obstetrics & Gynecology|March 14, 2024
Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case reportTakeshi Nagao, Momoko Inoue, Yuki Ito, et al.Pageof 7