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Molecular Genetics and Metabolism
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October 2, 2025
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature
Chloé J Geerts, Fernando Alvarez, Brian M Gilfix, et al.
Molecular Genetics and Metabolism
|
March 29, 2026
Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results
Matthew J Schultz, Kristen L Liedtke, Coleman T Turgeon, et al.
JBJS Case Connector
|
October 3, 2024
When Is a Clay-Shoveler's Fracture, Not a Clay-Shoveler's Fracture?: A Case Report
Matthew J Schultz, Michael R Wheeler, Loren O Black, et al.
Neuromuscular Disorders : NMD
|
January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance
Michelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2026
Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency
Anu Jain, Rohit Budhraja, Kishore Garapati, et al.
Cureus
|
August 12, 2025
A Pilot Study of Orthopedic Applicants Regarding Sub-internship Number, Cost, and Preferences
Matthew J Schultz, Samantha Riebesell, Rex W Lutz, et al.
Journal of Ovarian Research
|
April 13, 2013
ST6Gal-I sialyltransferase confers cisplatin resistance in ovarian tumor cells
Matthew J Schultz, Amanda F Swindall, John W Wright, et al.
Tissue Engineering. Part A
|
February 27, 2014
Microporous dermal-like electrospun scaffolds promote accelerated skin regeneration
Paul P Bonvallet, Bonnie K Culpepper, Jennifer L Bain, et al.
Cancer Research
|
January 30, 2013
ST6Gal-I protein expression is upregulated in human epithelial tumors and correlates with stem cell markers in normal tissues and colon cancer cell lines
Amanda F Swindall, Angelina I Londoño-Joshi, Matthew J Schultz, et al.
Annals of Medicine and Surgery (2012)
|
October 21, 2022
Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study
Zaib Un Nisa Khan, Lena Jafri, Patricia L Hall, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 50) with videos related to
Sort By:
Page
of 5
Molecular Genetics and Metabolism
|
October 2, 2025
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature
Chloé J Geerts, Fernando Alvarez, Brian M Gilfix, et al.
Molecular Genetics and Metabolism
|
March 29, 2026
Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results
Matthew J Schultz, Kristen L Liedtke, Coleman T Turgeon, et al.
JBJS Case Connector
|
October 3, 2024
When Is a Clay-Shoveler's Fracture, Not a Clay-Shoveler's Fracture?: A Case Report
Matthew J Schultz, Michael R Wheeler, Loren O Black, et al.
Neuromuscular Disorders : NMD
|
January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance
Michelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2026
Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency
Anu Jain, Rohit Budhraja, Kishore Garapati, et al.
Cureus
|
August 12, 2025
A Pilot Study of Orthopedic Applicants Regarding Sub-internship Number, Cost, and Preferences
Matthew J Schultz, Samantha Riebesell, Rex W Lutz, et al.
Journal of Ovarian Research
|
April 13, 2013
ST6Gal-I sialyltransferase confers cisplatin resistance in ovarian tumor cells
Matthew J Schultz, Amanda F Swindall, John W Wright, et al.
Tissue Engineering. Part A
|
February 27, 2014
Microporous dermal-like electrospun scaffolds promote accelerated skin regeneration
Paul P Bonvallet, Bonnie K Culpepper, Jennifer L Bain, et al.
Cancer Research
|
January 30, 2013
ST6Gal-I protein expression is upregulated in human epithelial tumors and correlates with stem cell markers in normal tissues and colon cancer cell lines
Amanda F Swindall, Angelina I Londoño-Joshi, Matthew J Schultz, et al.
Annals of Medicine and Surgery (2012)
|
October 21, 2022
Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study
Zaib Un Nisa Khan, Lena Jafri, Patricia L Hall, et al.
Page
of 5