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European Journal of Human Genetics : EJHG|May 23, 2013
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene clusterMichelle B Polan, Matthew T Pastore, Katherine Steingass, et al.
European Journal of Medical Genetics|March 6, 2019
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disordersElena A Repnikova, Dmitry A Lyalin, Kimberly McDonald, et al.
European Journal of Medical Genetics|March 25, 2018
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variantElizabeth S Barrie, Yu Li, Devon Lamb-Thrush, et al.
The American Journal of Surgical Pathology|March 20, 2023
HER2 IHC Expression and Gene Amplification in p53-aberrant High-grade Endometrial Endometrioid Carcinoma Suggests That This Population May Benefit From HER2 Testing and Targeted TherapyAmy S Joehlin-Price, Miglena K Komforti, Nicholas R Ladwig, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
12q14 microdeletion associated with HMGA2 gene disruption and growth restrictionFadel Alyaqoub, Robert E Pyatt, Andrea Bailes, et al.
Histopathology|June 13, 2024
ALK-rearranged, CD34-positive spindle cell neoplasms resembling dermatofibrosarcoma protuberans: a study of seven casesShruti Agrawal, Baptiste Ameline, Andrew L Folpe, et al.
American Journal of Medical Genetics. Part A|July 13, 2012
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patientsElena A Repnikova, Caroline Astbury, Shalini C Reshmi, et al.
Virchows Archiv : an International Journal of Pathology|July 19, 2023
Novel NONO::TFE3 fusion and ALK co-expression identified in a subset of cutaneous microcystic/reticular schwannomaKaren J Fritchie, Josephine K Dermawan, Caroline Astbury, et al.
Archives of Pathology & Laboratory Medicine|November 27, 2025
Current and Future Utilization of Optical Genome Mapping: Insights From the 2024 College of American Pathologists Supplemental QuestionnaireJuli-Anne Gardner, Rangsinee Nusapan, Julian Tan, et al.
Muscle & Nerve|April 5, 2013
Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulationXiomara Q Rosales, Vinod Malik, Amita Sneh, et al.
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