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Molecular Syndromology|July 8, 2016
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene DeletionJonathan P Hintze, Amelia Kirby, Erin Torti, et al.
Cytogenetic and Genome Research|January 31, 2015
Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocationPruthvi Pota, Vasiliki Grammatopoulou, Erin Torti, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplicationsJacqueline R Batanian, Stephen R Braddock, Katherine Christensen, et al.
American Journal of Medical Genetics. Part A|July 30, 2013
Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangementErin E Torti, Stephen R Braddock, Kristen Bernreuter, et al.
Journal of Pediatric Hematology/Oncology|October 1, 2004
Lymphoblastic Leukemia With Mature B-Cell Phenotype in InfancyJohn L Frater, Jacqueline R Batanian, Dennis M O'Connor, et al.
Journal of the Association of Genetic Technologists|June 12, 2020
A Novel t(10;22) Translocation Harboring an IGL Gene Deletion in a CLL Patient Transforming to B-PLL with 1q GainLei Sun, Vinit V Patil, Nathan Wilgus, et al.
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