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Catherine Rehder

Showing results (21-30 of 49) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2010
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type IIIJennifer L Goldstein, Stephanie L Austin, Keri Boyette, et al.
The American Journal of Surgical Pathology|February 15, 2011
Sequential development of histiocytic sarcoma and diffuse large b-cell lymphoma in a patient with a remote history of follicular lymphoma with genotypic evidence of a clonal relationship: a divergent (bilineal) neoplastic transformation of an indolent B-cell lymphoma in a single individualEndi Wang, John Papalas, Charles Blake Hutchinson, et al.
Genome Medicine|December 5, 2014
Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understandingSusanne B Haga, Rachel Mills, Kathryn I Pollak, et al.
Pathology, Research and Practice|November 9, 2019
Sequential development of human herpes virus 8-positive diffuse large B-cell lymphoma and chronic myelomonocytic leukemia in a 59 year old female patient with hemoglobin SC diseaseYue Zhao, Jake Maule, Yang Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2021
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Catherine Rehder, Lora J H Bean, David Bick, et al.
Pediatric Research|April 28, 2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challengeQiong Xu, Jennifer Goldstein, Ping Wang, et al.
Journal of Inherited Metabolic Disease|October 5, 2025
Revisiting the Genetics of HypophosphatasiaPriya S Kishnani, Catherine Rehder, Keiichi Ozono, et al.
Molecular Genetics and Metabolism|May 19, 2020
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and femalesAshlee R Stiles, Haoyue Zhang, Jian Dai, et al.
Molecular Genetics & Genomic Medicine|May 6, 2021
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odysseyHeidi Cope, Hayk Barseghyan, Surajit Bhattacharya, et al.
Molecular Genetics and Metabolism|November 11, 2017
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe diseaseMari Mori, Gloria Haskell, Zoheb Kazi, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2010
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type IIIJennifer L Goldstein, Stephanie L Austin, Keri Boyette, et al.
The American Journal of Surgical Pathology|February 15, 2011
Sequential development of histiocytic sarcoma and diffuse large b-cell lymphoma in a patient with a remote history of follicular lymphoma with genotypic evidence of a clonal relationship: a divergent (bilineal) neoplastic transformation of an indolent B-cell lymphoma in a single individualEndi Wang, John Papalas, Charles Blake Hutchinson, et al.
Genome Medicine|December 5, 2014
Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understandingSusanne B Haga, Rachel Mills, Kathryn I Pollak, et al.
Pathology, Research and Practice|November 9, 2019
Sequential development of human herpes virus 8-positive diffuse large B-cell lymphoma and chronic myelomonocytic leukemia in a 59 year old female patient with hemoglobin SC diseaseYue Zhao, Jake Maule, Yang Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2021
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Catherine Rehder, Lora J H Bean, David Bick, et al.
Pediatric Research|April 28, 2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challengeQiong Xu, Jennifer Goldstein, Ping Wang, et al.
Journal of Inherited Metabolic Disease|October 5, 2025
Revisiting the Genetics of HypophosphatasiaPriya S Kishnani, Catherine Rehder, Keiichi Ozono, et al.
Molecular Genetics and Metabolism|May 19, 2020
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and femalesAshlee R Stiles, Haoyue Zhang, Jian Dai, et al.
Molecular Genetics & Genomic Medicine|May 6, 2021
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odysseyHeidi Cope, Hayk Barseghyan, Surajit Bhattacharya, et al.
Molecular Genetics and Metabolism|November 11, 2017
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe diseaseMari Mori, Gloria Haskell, Zoheb Kazi, et al.
Pageof 5