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John Pappas

Showing results (21-30 of 59) with videos related to

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American Journal of Medical Genetics. Part A|May 20, 2011
UPD detection using homozygosity profiling with a SNP genotyping microarrayPeter Papenhausen, Stuart Schwartz, Hiba Risheg, et al.
Anticancer Research|December 25, 2009
Differential expression of CD3zeta message and protein in tumor infiltrating lymphocytes from solid tumor specimens and malignant ascites from patients with ovarian carcinomaJohn Pappas, Alexey D Wolfson, Weon J Jung, et al.
American Journal of Medical Genetics. Part A|August 9, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Wendy K Chung, et al.
Vaccine|July 20, 2011
A heat shock protein based polyvalent vaccine targeting HSV-2: CD4(+) and CD8(+) cellular immunity and protective efficacyAnnie Mo, Cristina Musselli, Hong Chen, et al.
Human Molecular Genetics|January 7, 2023
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndromeMidhat Rizvi, Tina K Truong, Janet Zhou, et al.
Cellular Immunology|July 26, 2005
Substantial proportions of identical beta-chain T-cell receptor transcripts are present in epithelial ovarian carcinoma tumorsJohn Pappas, Weon-Ju Jung, Angeliki K Barda, et al.
American Journal of Human Genetics|October 22, 2019
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and PhotophobiaLynn M Boyden, Lihi Atzmony, Claire Hamilton, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
The Journal of Clinical Investigation|April 17, 2025
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemiaBenjamin A Harrison, Emma Mizrahi-Powell, John Pappas, et al.
CPT: Pharmacometrics & Systems Pharmacology|June 20, 2018
Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and PharmacologyChanchala D Kaddi, Bradley Niesner, Rena Baek, et al.
Pageof 6

Showing results (21-30 of 59) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|May 20, 2011
UPD detection using homozygosity profiling with a SNP genotyping microarrayPeter Papenhausen, Stuart Schwartz, Hiba Risheg, et al.
Anticancer Research|December 25, 2009
Differential expression of CD3zeta message and protein in tumor infiltrating lymphocytes from solid tumor specimens and malignant ascites from patients with ovarian carcinomaJohn Pappas, Alexey D Wolfson, Weon J Jung, et al.
American Journal of Medical Genetics. Part A|August 9, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Wendy K Chung, et al.
Vaccine|July 20, 2011
A heat shock protein based polyvalent vaccine targeting HSV-2: CD4(+) and CD8(+) cellular immunity and protective efficacyAnnie Mo, Cristina Musselli, Hong Chen, et al.
Human Molecular Genetics|January 7, 2023
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndromeMidhat Rizvi, Tina K Truong, Janet Zhou, et al.
Cellular Immunology|July 26, 2005
Substantial proportions of identical beta-chain T-cell receptor transcripts are present in epithelial ovarian carcinoma tumorsJohn Pappas, Weon-Ju Jung, Angeliki K Barda, et al.
American Journal of Human Genetics|October 22, 2019
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and PhotophobiaLynn M Boyden, Lihi Atzmony, Claire Hamilton, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
The Journal of Clinical Investigation|April 17, 2025
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemiaBenjamin A Harrison, Emma Mizrahi-Powell, John Pappas, et al.
CPT: Pharmacometrics & Systems Pharmacology|June 20, 2018
Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and PharmacologyChanchala D Kaddi, Bradley Niesner, Rena Baek, et al.
Pageof 6