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	81.	Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation. [electronic resource] by Sukegawa, K Matsuzaki, T Fukuda, S Masuno, M Fukao, T Kokuryu, M Iwata, S Tomatsu, S Orii, T Kondo, N Producer: 19980709 In: Clinical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. [electronic resource] by Masuno, M Shimozawa, N Suzuki, Y Kondo, N Orii, T Tsukamoto, T Osumi, T Fujiki, Y Imaizumi, K Kuroki, Y Producer: 19940729 In: Genomics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation. [electronic resource] by Masuno, M Cholsong, Y Kuwahara, T Shimizu, N Yamaguchi, S Kawabata, I Tamaya, T Morishita, Y Yoshimi, N Orii, T Producer: 19911223 In: American journal of medical genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Another critical region for deletion of 22q11: a study of 100 patients. [electronic resource] by Kurahashi, H Tsuda, E Kohama, R Nakayama, T Masuno, M Imaizumi, K Kamiya, T Sano, T Okada, S Nishisho, I Producer: 19971112 In: American journal of medical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients. [electronic resource] by Muroya, K Ishii, T Nakahori, Y Asakura, Y Tachibana, K Masuno, M Imaizumi, K Tanaka, Y Kawada, Y Yukizane, S Ogata, T Producer: 19990621 In: Genes, chromosomes & cancer vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. [electronic resource] by Adachi, M Tachibana, K Masuno, M Makita, Y Maesaka, H Okada, T Hizukuri, K Imaizumi, K Kuroki, Y Kurahashi, H Suwa, S Producer: 19980317 In: European journal of pediatrics vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	Brachmann-de Lange syndrome and congenital heart disease. [electronic resource] by Tsukahara, M Okamoto, N Ohashi, H Kuwajima, K Kondo, I Sugie, H Nagai, T Naritomi, K Hasegawa, T Fukushima, Y Masuno, M Kuroki, Y Producer: 19980326 In: American journal of medical genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	88.	Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. [electronic resource] by Sukegawa, K Song, X Q Masuno, M Fukao, T Shimozawa, N Fukuda, S Isogai, K Nishio, H Matsuo, M Tomatsu, S Kondo, N Orii, T Producer: 19971209 In: Human mutation vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. [electronic resource] by Nakamura, A Matsuura, S Tauchi, H Hanada, R Ohashi, H Hasegawa, T Honda, K Masuno, M Imaizumi, K Sugita, K Ide, T Komatsu, K Producer: 19990301 In: Journal of human genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	90.	Life-threatening cardiac involvement throughout life in a case of Costello syndrome. [electronic resource] by Fukao, T Sakai, S Shimozawa, N Kuwahara, T Kano, M Goto, E Nakashima, Y Katagiri-Kawade, M Ichihashi, H Masuno, M Orii, T Kondo, N Producer: 19970326 In: Clinical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	91.	Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. [electronic resource] by Murata, T Kurokawa, R Krones, A Tatsumi, K Ishii, M Taki, T Masuno, M Ohashi, H Yanagisawa, M Rosenfeld, M G Glass, C K Hayashi, Y Producer: 20010712 In: Human molecular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	92.	Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. [electronic resource] by Goobie, S Morrison, J Ginzberg, H Ellis, L Corey, M Masuno, M Imaizumi, K Kuroki, Y Fujiwara, T M Morgan, K Durie, P R Rommens, J M Producer: 19990930 In: American journal of medical genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	93.	Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. [electronic resource] by Fukuda, S Shimozawa, N Suzuki, Y Zhang, Z Tomatsu, S Tsukamoto, T Hashiguchi, N Osumi, T Masuno, M Imaizumi, K Kuroki, Y Fujiki, Y Orii, T Kondo, N Producer: 19970114 In: American journal of human genetics vol. 59 Availability: No items available. Save to lists Add to cart (remove)
	94.	Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. [electronic resource] by Petrij, F Giles, R H Dauwerse, H G Saris, J J Hennekam, R C Masuno, M Tommerup, N van Ommen, G J Goodman, R H Peters, D J Producer: 19950906 In: Nature vol. 376 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	95.	Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. [electronic resource] by Fukuda, S Tomatsu, S Masuno, M Ogawa, T Yamagishi, A Rezvi, G M Sukegawa, K Shimozawa, N Suzuki, Y Kondo, N Imaizumi, K Kuroki, Y Okabe, T Orii, T Producer: 19961017 In: Human mutation vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	96.	Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene. [electronic resource] by Ikegawa, S Masuno, M Kumano, Y Okawa, A Isomura, M Koyama, K Okui, K Makita, Y Sasaki, M Kohdera, U Okuda, M Koyama, H Ohashi, H Tajiri, H Imaizumi, K Nakamura, Y Producer: 19990928 In: Clinical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. [electronic resource] by Schimmenti, L A Cunliffe, H E McNoe, L A Ward, T A French, M C Shim, H H Zhang, Y H Proesmans, W Leys, A Byerly, K A Braddock, S R Masuno, M Imaizumi, K Devriendt, K Eccles, M R Producer: 19970508 In: American journal of human genetics vol. 60 Availability: No items available. Save to lists Add to cart (remove)
	98.	Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. [electronic resource] by Gibbons, R J Bachoo, S Picketts, D J Aftimos, S Asenbauer, B Bergoffen, J Berry, S A Dahl, N Fryer, A Keppler, K Kurosawa, K Levin, M L Masuno, M Neri, G Pierpont, M E Slaney, S F Higgs, D R Producer: 19971114 In: Nature genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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