Ruth S. Mcgowan
Glasgow, SCT, United Kingdom
Last Updated: 09/26/2026
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Found 55 publications
A multidisciplinary paediatric endocrine genetic clinic: experience from a single tertiary centre.
Journal: European journal of pediatrics
Published: December 24, 2025
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.
Journal: European journal of human genetics : EJHG
Published: December 22, 2025
How to Reduce Time to Genetic Testing: A Video-Based Approach in the Inherited Cardiac Conditions Service.
Journal: Journal of genetic counseling
Published: November 07, 2025
The Use of Routine Laboratory 17-Hydroxyprogesterone for Identification of Cases of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
Journal: Clinical endocrinology
Published: August 04, 2025
A case of hypothyroidism in infancy.
Journal: Archives of disease in childhood. Education and practice edition
Published: August 29, 2024
Eating disorders in minority ethnic populations in Australia, Canada, Aotearoa New Zealand and the UK: a scoping review.
Journal: Journal of eating disorders
Published: July 24, 2024
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.
Journal: European journal of human genetics : EJHG
Published: January 15, 2024
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants.
Journal: Clinical dysmorphology
Published: December 01, 2023
Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.
Journal: The European journal of health economics : HEPAC : health economics in prevention and care
Published: November 15, 2023
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Journal: American journal of human genetics
Published: November 12, 2023
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Journal: Endocrine
Published: November 10, 2023
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 02, 2023
Last Updated: 09/26/2026