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Pediatric Blood & Cancer|May 1, 2019
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old femaleBrian P Tullius, Suma P Shankar, Stacey Cole, et al.
American Journal of Medical Genetics. Part A|June 9, 2005
Terminal deletion of 6p results in a recognizable phenotypeRuth J Lin, Athena M Cherry, Kelly C Chen, et al.
Pediatric Blood & Cancer|October 7, 2004
Epstein-Barr virus-associated peripheral T-cell lymphoma and hemophagocytic syndrome arising after liver transplantation: case report and review of the literatureTracy I George, Michael Jeng, William Berquist, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|August 2, 2005
Fluorescence in situ hybridization investigation of cutaneous lesions in acute promyelocytic leukemiaJoanna E Wrede, Uma Sundram, Sabine Kohler, et al.
Human Mutation|July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTRKeith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 28, 2023
Applications of artificial intelligence in clinical laboratory genomicsSwaroop Aradhya, Flavia M Facio, Hillery Metz, et al.
American Journal of Human Genetics|March 20, 2021
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretationRebecca Truty, Karen Ouyang, Susan Rojahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 28, 2021
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panelDan Morgenstern-Kaplan, Jaime Raijman-Policar, Sore Majzner-Aronovich, et al.
Genes, Chromosomes & Cancer|July 22, 2006
Identification of novel Runx1 (AML1) translocation partner genes SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemiaTuDung T Nguyen, Lisa N Ma, Marilyn L Slovak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalitiesFady M Mikhail, Nyla A Heerema, Kathleen W Rao, et al.
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