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Oculofaciocardiodental syndrome caused by a novel BCOR variant.
Yamashita T, Hotta J, Jogu Y, Sakai E, Ono C, Bamba H, Suzuki H, Yamada M, Takenouchi T, Kosaki K, Yorifuji T, Hamazaki T, Seto T. Yamashita T, et al. Among authors: suzuki h. Hum Genome Var. 2023 Jun 12;10(1):18. doi: 10.1038/s41439-023-00244-x. Hum Genome Var. 2023. PMID: 37308473 Free PMC article.
Truncating mutation in CSNK2B and myoclonic epilepsy.
Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Among authors: suzuki h. Hum Mutat. 2017 Nov;38(11):1611-1612. doi: 10.1002/humu.23307. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28762608 No abstract available.
SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension.
Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Kanekura K, Satoh T, Fukuda K, Gamou S, Kosaki K. Hiraide T, et al. Among authors: suzuki h. Am J Respir Crit Care Med. 2018 Nov 1;198(9):1231-1233. doi: 10.1164/rccm.201804-0766LE. Am J Respir Crit Care Med. 2018. PMID: 30044643 No abstract available.
Schuurs-Hoeijmakers syndrome in two patients from Japan.
Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Hoshino Y, et al. Among authors: suzuki h. Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588754
SATB2-associated syndrome in patients from Japan: Linguistic profiles.
Yamada M, Uehara T, Suzuki H, Takenouchi T, Yoshihashi H, Suzumura H, Mizuno S, Kosaki K. Yamada M, et al. Among authors: suzuki h. Am J Med Genet A. 2019 Jun;179(6):896-899. doi: 10.1002/ajmg.a.61114. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848049
14,941 results
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