Last Updated: 09/26/2026
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Found 21 publications
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Journal: bioRxiv : the preprint server for biology
Published: January 03, 2024
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.
Journal: Cold Spring Harbor molecular case studies
Published: June 08, 2023
Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.
Journal: JIMD reports
Published: February 21, 2023
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.
Journal: Movement disorders clinical practice
Published: July 18, 2022
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Journal: Therapeutic advances in musculoskeletal disease
Published: December 22, 2021
Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice.
Journal: The Journal of pediatrics
Published: September 15, 2021
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
Journal: Pediatric nephrology (Berlin, Germany)
Published: June 15, 2021
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Journal: Science advances
Published: May 21, 2020
Reinterpretation of Chromosomal Microarrays with Detailed Medical History.
Journal: The Journal of pediatrics
Published: November 22, 2019
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.
Journal: Cytogenetic and genome research
Published: July 24, 2019
Clinical Exome Studies Have Inconsistent Coverage.
Journal: Clinical chemistry
Published: April 30, 2019
Last Updated: 09/26/2026