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Page 1
Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N. Kamimura J, et al. Among authors: yoshiura k. J Med Genet. 2003 Nov;40(11):e126. doi: 10.1136/jmg.40.11.e126. J Med Genet. 2003. PMID: 14627693 Free PMC article. No abstract available.
[Jarcho-Levin syndrome].
Yoshiura K, Niikawa N. Yoshiura K, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):196-7. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057193 Review. Japanese. No abstract available.
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N. Kuniba H, et al. Among authors: yoshiura ki. J Med Genet. 2008 Jul;45(7):479-80. doi: 10.1136/jmg.2008.058503. J Med Genet. 2008. PMID: 18593871 Free article. No abstract available.
[Beckwith-Wiedemann syndrome].
Yoshiura K, Niikawa N. Yoshiura K, et al. Nihon Rinsho. 2000 Jul;58(7):1511-4. Nihon Rinsho. 2000. PMID: 10921333 Review. Japanese.
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation.
Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N. Harada N, et al. Among authors: yoshiura k. J Med Genet. 2004 Feb;41(2):130-6. doi: 10.1136/jmg.2003.014639. J Med Genet. 2004. PMID: 14757861 Free PMC article. No abstract available.
466 results