Elise A. Ferreira
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 10 publications
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.
Journal: Journal of inherited metabolic disease
Published: February 10, 2026
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities.
Journal: Frontiers in radiology
Published: January 07, 2026
Sperm H3K9me3 levels are associated with embryo developmental dynamics and biochemical pregnancy in IVF patients with normozoospermia.
Journal: Reproductive biology and endocrinology : RB&E
Published: August 11, 2025
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.
Journal: Genetics in medicine open
Published: September 18, 2023
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Journal: Frontiers in neurology
Published: April 14, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Journal: American journal of human genetics
Published: November 02, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 04, 2022
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Journal: Molecular genetics and metabolism
Published: April 02, 2021
Treatment of ARS deficiencies with specific amino acids.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 18, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026