Last Updated: 09/26/2026
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Found 16 publications
Oral Aversion, Growth Faltering, and Hepatomegaly in a 4-Month-Old Girl.
Journal: Pediatrics in review
Published: October 02, 2025
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Journal: Molecular genetics and metabolism
Published: April 04, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 05, 2023
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Journal: Journal of neurophysiology
Published: May 18, 2022
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
Journal: Clinical chemistry
Published: February 08, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Journal: Genome medicine
Published: September 04, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Journal: Epilepsia
Published: July 10, 2020
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Journal: American journal of human genetics
Published: December 20, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 15, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Journal: American journal of medical genetics. Part A
Published: October 31, 2017
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Journal: American journal of human genetics
Published: October 12, 2017
Last Updated: 09/26/2026