Nicola S. Cooper
Edgbaston, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: November 03, 2025
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: August 31, 2022
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.
Journal: European journal of human genetics : EJHG
Published: July 28, 2020
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: February 14, 2018
Vitamin A and micronutrient deficiencies post-bariatric surgery: aetiology, complications and management in a complex multiparous pregnancy.
Journal: European journal of clinical nutrition
Published: February 13, 2018
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Journal: Journal of medical genetics
Published: July 27, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Journal: European journal of human genetics : EJHG
Published: March 12, 2017
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Journal: Journal of medical genetics
Published: August 16, 2014
PTEN mutations as a cause of constitutive insulin sensitivity and obesity.
Journal: The New England journal of medicine
Published: September 14, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026