Search Results - John Pappas

John C. Pappas

John C. Pappas (1906–1972) was a Greek-American jurist and businessman. Provided by Wikipedia
  • Showing 1 - 6 results of 6
Refine Results
  1. 1

    P282: Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12 by Rachel Rabin, John Pappas

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  2. 2

    P454: Deletion of exons 10 and 11 in FGFR2: Mother and daughter with sagittal craniosynostosis and micrognathia by John Pappas, Seth Shanefield, Michelle Goodman, Rachel Rabin

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  3. 3

    Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor by Preneet Cheema Brar, Elena Dingle, John Pappas, Manish Raisingani

    Published in Case Reports in Endocrinology (2017-01-01)
    Get full text
    Article


  4. 4

    Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis by Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony

    Published in Molecular Genetics & Genomic Medicine (2020-10-01)
    Get full text
    Article


  5. 5

    Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia by Benjamin A. Harrison, Emma Mizrahi-Powell, John Pappas, Kristen Thomas, Subrahmanya Vasishta, Shripad Hebbar, Anju Shukla, Shalini S. Nayak, Tina K. Truong, Amy Woroch, Yara Kharbutli, Bruce D. Gelb, Cassie S. Mintz, Gilad D. Evrony, Agata Smogorzewska

    Published in The Journal of Clinical Investigation (2025-06-01)
    Get full text
    Article


  6. 6

    Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans by Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A.E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. Coleman

    Published in The Journal of Clinical Investigation (2023-04-01)
    Get full text
    Article


Search Tools: