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European Journal of Human Genetics : EJHG|July 20, 2007
Guidelines for molecular karyotyping in constitutional genetic diagnosisJoris Robert Vermeesch, Heike Fiegler, Nicole de Leeuw, et al.Journal of Medical Genetics|September 18, 2017
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testingJosie Innes, Lisa Reali, Jill Clayton-Smith, et al.Blood|April 21, 2009
Prospective isolation and molecular characterization of hematopoietic stem cells with durable self-renewal potentialDavid G Kent, Michael R Copley, Claudia Benz, et al.The Cochrane Database of Systematic Reviews|August 30, 2023
Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the childRebecca Bromley, Naghme Adab, Matt Bluett-Duncan, et al.American Journal of Human Genetics|May 6, 2003
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportJuha Kolehmainen, Graeme C M Black, Anne Saarinen, et al.Birth Defects Research|September 17, 2025
A Scoping Review of Human Teratogens and Their Impact on the Developing Brain: A Contribution From the ConcePTION ProjectM Bluett-Duncan, J Adams, M Berkovitch, et al.American Journal of Human Genetics|August 2, 2007
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland, Jill Clayton-Smith, Victoria G Woo, et al.American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.Epilepsy & Behavior : E&B|January 21, 2019
Fetal antiepileptic drug exposure and learning and memory functioning at 6 years of age: The NEAD prospective observational studyMorris J Cohen, Kimford J Meador, Ryan May, et al.The Journal of Urology|December 23, 2018
Predicting Gleason Group Progression for Men on Prostate Cancer Active Surveillance: Role of a Negative Confirmatory Magnetic Resonance Imaging-Ultrasound Fusion BiopsyJonathan B Bloom, Graham R Hale, Samuel A Gold, et al.Pageof 36