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American Journal of Medical Genetics. Part A|October 18, 2008
Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalitiesMaria Descartes, Julie Zenger Hain, Michael Conklin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2009
AsktheGeneticist: five years of online experienceCatherine Tesla, Bruce R Korf, Lynn Holt, et al.American Journal of Medical Genetics. Part A|November 14, 2008
Distal 22q11.2 microduplication encompassing the BCR geneMaria Descartes, Judy Franklin, Teresita Diaz de Ståhl, et al.American Journal of Medical Genetics. Part A|August 7, 2007
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR geneFady M Mikhail, Maria Descartes, Arkadiusz Piotrowski, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Clinical relevance of small copy-number variants in chromosomal microarray clinical testingDana Hollenbeck, Crescenda L Williams, Kathryn Drazba, et al.JIMD Reports|February 12, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of AgeChristina Lampe, Andrea Atherton, Barbara K Burton, et al.American Journal of Medical Genetics. Part A|March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene clusterJill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.Clinical Genetics|July 26, 2023
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndromeNewell Belnap, Aiai Price-Smith, Keri Ramsey, et al.European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.Pageof 3