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Leukemia & Lymphoma
|
December 7, 2019
Characterization of a cryptic <i>PML-RARA</i> fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative <i>RARA</i> FISH studies
Matthew J Schultz, Patrick R Blackburn, Christopher H Cogbill, et al.
Annals of Clinical and Translational Neurology
|
June 11, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature
Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.
Cancer Research
|
May 25, 2016
The Tumor-Associated Glycosyltransferase ST6Gal-I Regulates Stem Cell Transcription Factors and Confers a Cancer Stem Cell Phenotype
Matthew J Schultz, Andrew T Holdbrooks, Asmi Chakraborty, et al.
JCI Insight
|
April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Science Advances
|
April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Robert Wang, Feng Wang, Nicole DeBruyne, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Neurology
|
November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
Rhonda E Schnur, Sairah Yousaf, James Liu, et al.
American Journal of Human Genetics
|
June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Muhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
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Search research articles
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Showing results (41-50 of 50) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 50 results.
Leukemia & Lymphoma
|
December 7, 2019
Characterization of a cryptic <i>PML-RARA</i> fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative <i>RARA</i> FISH studies
Matthew J Schultz, Patrick R Blackburn, Christopher H Cogbill, et al.
Annals of Clinical and Translational Neurology
|
June 11, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature
Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.
Cancer Research
|
May 25, 2016
The Tumor-Associated Glycosyltransferase ST6Gal-I Regulates Stem Cell Transcription Factors and Confers a Cancer Stem Cell Phenotype
Matthew J Schultz, Andrew T Holdbrooks, Asmi Chakraborty, et al.
JCI Insight
|
April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Science Advances
|
April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Robert Wang, Feng Wang, Nicole DeBruyne, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Neurology
|
November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
Rhonda E Schnur, Sairah Yousaf, James Liu, et al.
American Journal of Human Genetics
|
June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Muhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Page
of 5