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Schneider M, Hirt C, Casaulta C, Barben J, Spinas R, Bühlmann U, Spalinger J, Schwizer B, Chevalier-Porst F, Gallati S. Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.Clin Genet 2007: 72: 30–38. © Blackwell Munksgaard, 2007Cystic fibrosis (CF) is the most...
VanZutphen KH, Packman W, Sporri L, Needham MC, Morgan C, Weisiger K, Packman S. Executive functioning in children and adolescents with phenylketonuria.Clin Genet 2007: 72: 13–18. © Blackwell Munksgaard, 2007This study addresses the effects of dietary adherence, phenylalanine (phe) levels, and...
Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.Clin Genet 2007: 72: 47–58. © Blackwell Munksgaard, 2007Multiple congenital anomalies/mental retardation syndromes due to...
Narzi L, Ferraguti G, Stamato A, Narzi F, Valentini SB, Lelli A, Delaroche I, Lucarelli M, Strom R, Quattrucci S. Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.Clin Genet 2007: 72: 39–46. © Blackwell...
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies eight novel gene lociNajmabadi H et al. (2007)Human Genetics 12: 43–48A new locus for autosomal recessive non-syndromic mental retardation maps to...
Abidi FE, Miano MG, Murray JC, Schwartz CE. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.Clin Genet 2007: 72: 19–22. © Blackwell Munksgaard, 2007Recently, two truncating mutations in the PHF8 (plant homeodomain finger protein 8)...
Di Cristo G. Development of cortical GABAergic circuits and its implications for neurodevelopmental disorders.Clin Genet 2007: 72: 1–8. © Blackwell Munksgaard, 2007GABAergic interneurons powerfully control the function of cortical networks. In addition, they strongly regulate cortical...
Wali A, Chishti MS, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11–q21.32.Clin Genet 2007: 72: 23–29. © Blackwell Munksgaard, 2007Autosomal recessive hypotrichosis is a rare form of...
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