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American Journal of Medical Genetics. Part A|October 3, 2008
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutationNicola Brunetti-Pierri, Daniela Del Gaudio, Hartmut Peters, et al.American Journal of Medical Genetics. Part A|October 3, 2008
Kapur-Toriello syndrome: further delineationEmiy Yokoyama, Angélica Martínez, Ariadna González-Del AngelAmerican Journal of Medical Genetics. Part A|October 3, 2008
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasiaTom G W Letteboer, Hans-Jurgen Mager, Repke J Snijder, et al.American Journal of Medical Genetics. Part A|September 27, 2008
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genesDaniel Zanetti Scherrer, Fabiana Alexandrino, Maria Letícia Cintra, et al.American Journal of Medical Genetics. Part A|September 17, 2008
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenitaAleksander Hinek, Shailly Jain, Glenn Taylor, et al.American Journal of Medical Genetics. Part A|September 17, 2008
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compressionMaria-Veronica Munoz-Rojas, Taiane Vieira, Ronaldo Costa, et al.American Journal of Medical Genetics. Part A|September 12, 2008
Using second trimester ultrasound and maternal serum biomarker data to help detect congenital heart defects in pregnancies with positive triple-marker screening resultsLaura L Jelliffe-Pawlowski, Lynn Walton-Haynes, Robert J CurrierAmerican Journal of Medical Genetics. Part A|September 18, 2008
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish populationFaith Pangilinan, Kerry Geiler, Jessica Dolle, et al.American Journal of Medical Genetics. Part A|September 18, 2008
Sirenomelia and cyclopia cluster in Cali, ColombiaEduardo E Castilla, Pierpaolo Mastroiacovo, Jorge S López-Camelo, et al.American Journal of Medical Genetics. Part A|September 18, 2008
Pure duplication 1q41-qter: further delineation of trisomy 1q syndromesLeslie Domenici Kulikowski, Fernanda T S Bellucco, Sintia I Nogueira, et al.Pageof 929