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Publisher: Wiley-Blackwell

Volume 76, Number 3, September 2009

Kåre Berg (1932–2009)
pp. 223-224(2)
Authors: Retterstøl, Lars; Børresen-Dale, Anne-Lise

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APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas
pp. 242-255(14)
Authors: Filipe, B; Baltazar, C; Albuquerque, C; Fragoso, S; Lage, P; Vitoriano, I; Mão de Ferro, S; Claro, I; Rodrigues, P; Fidalgo, P; Chaves, P; Cravo, M; Nobre Leitão, C

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Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location
pp. 256-262(7)
Authors: Surace, C; Piazzolla, S; Sirleto, P; Digilio, MC; Roberti, MC; Lombardo, A; D'Elia, G; Tomaiuolo, AC; Petrocchi, S; Capolino, R; El Hachem, M; Claps Sepulveda, D; Sgura, A; Angioni, A

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Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
pp. 263-269(7)
Authors: Klaus, V; Vermeulen, T; Minassian, B; Israelian, N; Engel, K; Lund, AM; Roebrock, K; Christensen, E; Häberle, J

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DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15
pp. 270-275(6)
Authors: Waryah, AM; Rehman, A; Ahmed, ZM; Bashir, Z-H; Khan, SY; Zafar, AU; Riazuddin, S; Friedman, TB; Riazuddin, S

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CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis
pp. 282-286(5)
Authors: Chiang, H-S; Lu, J-F; Liu, C-H; Wu, Y-N; Wu, C-C

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Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis
pp. 287-291(5)
Authors: Yu, JE; Jeong, S-Y; Yang, J-A; Park, MS; Kim, HJ; Yoon, SH

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A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation
pp. 292-295(4)
Authors: Slim, R; Bagga, R; Chebaro, W; Srinivasan, R; Agarwal, N

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Polyalamine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly
pp. 300-302(3)
Authors: Wajid, M; Ishii, Y; Kurban, M; Dua-Awereh, MB; Shimomura, Y; Christiano, AM

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