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John Pappas

Showing results (11-20 of 59) with videos related to

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Pediatrics|May 29, 2013
Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoyaRebecca E Rosenberg, Maureen Egan, Shaun Rodgers, et al.
Movement Disorders Clinical Practice|February 13, 2019
Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American BrothersEvan Noch, Claire Henchcliffe, Natalie Hellmers, et al.
American Journal of Medical Genetics. Part A|July 10, 2019
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two casesRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
Molecular Genetics and Metabolism|November 3, 2023
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencingConnolly Steigerwald, Jill Borsuk, John Pappas, et al.
American Journal of Medical Genetics. Part A|January 14, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected MotherRachel Rabin, Kevin T A Booth, Shawn E Cowper, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish AncestryRachel Rabin, Yoel Hirsch, Kevin T A Booth, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium|January 20, 2004
Mobile technology in a clinical settingKara Holleran, John Pappas, Hong Lou, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|September 27, 2024
The University of Southern California psychosocial checklist: A novel tool to remotely screen transplant candidates with alcohol-associated liver disease prior to hospital transferBrooke Edwards, Samantha Ramirez, John Pappas, et al.
Human Immunology|June 7, 2005
Identification of HLA-DQalpha and -DRbeta residues associated with susceptibility and protection to epithelial ovarian cancerDimitri S Monos, John Pappas, Eleni E Magira, et al.
Anticancer Research|August 5, 2003
Immune responses to human tumors: development of tumor vaccinesChris D Platsoucas, John E Fincke, John Pappas, et al.
Pageof 6

Showing results (11-20 of 59) with videos related to

Sort By:
Pageof 6
Pediatrics|May 29, 2013
Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoyaRebecca E Rosenberg, Maureen Egan, Shaun Rodgers, et al.
Movement Disorders Clinical Practice|February 13, 2019
Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American BrothersEvan Noch, Claire Henchcliffe, Natalie Hellmers, et al.
American Journal of Medical Genetics. Part A|July 10, 2019
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two casesRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
Molecular Genetics and Metabolism|November 3, 2023
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencingConnolly Steigerwald, Jill Borsuk, John Pappas, et al.
American Journal of Medical Genetics. Part A|January 14, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected MotherRachel Rabin, Kevin T A Booth, Shawn E Cowper, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish AncestryRachel Rabin, Yoel Hirsch, Kevin T A Booth, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium|January 20, 2004
Mobile technology in a clinical settingKara Holleran, John Pappas, Hong Lou, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|September 27, 2024
The University of Southern California psychosocial checklist: A novel tool to remotely screen transplant candidates with alcohol-associated liver disease prior to hospital transferBrooke Edwards, Samantha Ramirez, John Pappas, et al.
Human Immunology|June 7, 2005
Identification of HLA-DQalpha and -DRbeta residues associated with susceptibility and protection to epithelial ovarian cancerDimitri S Monos, John Pappas, Eleni E Magira, et al.
Anticancer Research|August 5, 2003
Immune responses to human tumors: development of tumor vaccinesChris D Platsoucas, John E Fincke, John Pappas, et al.
Pageof 6