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American Journal of Medical Genetics. Part A|June 26, 2010
Newborn and carrier screening for spinal muscular atrophyThomas W Prior, Pamela J Snyder, Britton D Rink, et al.American Journal of Medical Genetics. Part A|May 20, 2011
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 geneJack Goldblatt, Jill Hyatt, Caitlin Edwards, et al.American Journal of Medical Genetics. Part A|May 20, 2011
UPD detection using homozygosity profiling with a SNP genotyping microarrayPeter Papenhausen, Stuart Schwartz, Hiba Risheg, et al.American Journal of Medical Genetics. Part A|July 12, 2011
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pterPiotr S Iwanowski, Barbara Panasiuk, Griet Van Buggenhout, et al.American Journal of Medical Genetics. Part A|July 12, 2011
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literatureEdina Torgyekes, Alan L Shanske, Kwame Anyane-Yeboa, et al.American Journal of Medical Genetics. Part A|October 16, 2007
Complete sex reversal in a WAGR syndrome patientCedric Le Caignec, Capucine Delnatte, Joris R Vermeesch, et al.American Journal of Medical Genetics. Part A|October 16, 2007
Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: results of a pilot study in IsraelSorina Grisaru-Granovsky, Aharon Tevet, Rachel Bar-Shavit, et al.American Journal of Medical Genetics. Part A|October 16, 2007
Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional casesKim Keppler-Noreuil, Judy Welch, Katherine Baker-LangeAmerican Journal of Medical Genetics. Part A|October 16, 2007
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafnessMichael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, et al.American Journal of Medical Genetics. Part A|October 17, 2007
Limb body wall complex and amniotic band sequence in sibsRonaldo Levy, Didier Lacombe, Yannick Rougier, et al.Pageof 928