Ruth S. Richardson
Newcastle Upon Tyne, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 22 publications
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
Journal: European journal of human genetics : EJHG
Published: May 31, 2024
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Journal: EBioMedicine
Published: June 01, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Journal: Human molecular genetics
Published: February 16, 2023
Norman Dott's dome-shaped neurosurgical operating theatres in Edinburgh (1960-2020) - End of an era.
Norman Dott's dome-shaped neurosurgical operating theatres in Edinburgh (1960-2020) - End of an era.
Journal: Journal of medical biography
Published: February 02, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Journal: American journal of human genetics
Published: November 28, 2022
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Journal: American journal of medical genetics. Part A
Published: August 19, 2022
Mosaicism in Hartsfield syndrome.
Journal: European journal of medical genetics
Published: November 09, 2021
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Journal: American journal of medical genetics. Part A
Published: May 26, 2021
Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
Journal: Clinical genetics
Published: July 03, 2020
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Journal: European journal of human genetics : EJHG
Published: May 28, 2020
Using group concept mapping to explore the complexities of managing children's care.
Journal: Nurse researcher
Published: July 03, 2019
Is surgery effective in patients with femoroacetabular impingement syndrome?
Journal: BMJ (Clinical research ed.)
Published: April 20, 2019
Last Updated: 09/26/2026