April Dinwiddie
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 10 publications
Corrigendum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol. Genet. Metab. 148(2) (2026) 109906].
Journal: Molecular genetics and metabolism
Published: June 08, 2026
Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report.
Journal: Prenatal diagnosis
Published: May 07, 2026
Erratum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol Genet Metab. (2026) Vol. 148 Issue 2 109906].
Journal: Molecular genetics and metabolism
Published: April 07, 2026
Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.
Journal: Molecular genetics and metabolism
Published: January 21, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 2025
Successful treatment of neonatal COQ2 deficiency with 4-hydroxybenzoic acid.
Journal: Brain : a journal of neurology
Published: November 10, 2025
First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.
First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.
Journal: Frontiers in endocrinology
Published: August 19, 2025
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summary.
Journal: European journal of medical genetics
Published: August 27, 2022
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
Journal: Clinical genetics
Published: June 16, 2020
Pigment Cell Progenitors in Zebrafish Remain Multipotent through Metamorphosis.
Journal: Developmental cell
Published: March 07, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026