Search research articles
Contact Us
Filters
Showing results (1-10 of 12) with videos related to
Page
of 2
Sort By:
Developmental Medicine and Child Neurology
|
August 29, 2024
Genetic investigations in cerebral palsy
Anna P Basu, Karen Low, Thiloka Ratnaike, et al.
Trends in Genetics : TIG
|
July 18, 2020
Mitochondrial Diseases: A Diagnostic Revolution
Katherine R Schon, Thiloka Ratnaike, Jelle van den Ameele, et al.
American Journal of Human Genetics
|
April 30, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience
Thiloka Ratnaike, Ida Paramonov, Catarina Olimpio, et al.
Archives of Disease in Childhood
|
October 29, 2024
Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment?
Frederica Sarantis, Aisosa Osas Guobadia, Marwa A Bebars, et al.
Archives of Disease in Childhood
|
October 24, 2023
UK paediatric trainee research involvement: A national mixed-methods survey to highlight opportunities and challenges
Thiloka Ratnaike, Helen McDermott, Fiona McQuaid, et al.
Archives of Disease in Childhood. Education and Practice Edition
|
May 14, 2026
Fifteen-minute consultation: Early developmental impairment - an update on diagnostic tests
Frederica Sarantis, Francesca Seregni, Thiloka Ratnaike, et al.
Brain : a Journal of Neurology
|
November 27, 2013
Disease progression in patients with single, large-scale mitochondrial DNA deletions
John P Grady, Georgia Campbell, Thiloka Ratnaike, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2026
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants
Thiloka Ratnaike, Siddharth Ramanan, Nour Elkhateeb, et al.
BMJ (Clinical Research Ed.)
|
November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Katherine R Schon, Rita Horvath, Wei Wei, et al.
Orphanet Journal of Rare Diseases
|
August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Developmental Medicine and Child Neurology
|
August 29, 2024
Genetic investigations in cerebral palsy
Anna P Basu, Karen Low, Thiloka Ratnaike, et al.
Trends in Genetics : TIG
|
July 18, 2020
Mitochondrial Diseases: A Diagnostic Revolution
Katherine R Schon, Thiloka Ratnaike, Jelle van den Ameele, et al.
American Journal of Human Genetics
|
April 30, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience
Thiloka Ratnaike, Ida Paramonov, Catarina Olimpio, et al.
Archives of Disease in Childhood
|
October 29, 2024
Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment?
Frederica Sarantis, Aisosa Osas Guobadia, Marwa A Bebars, et al.
Archives of Disease in Childhood
|
October 24, 2023
UK paediatric trainee research involvement: A national mixed-methods survey to highlight opportunities and challenges
Thiloka Ratnaike, Helen McDermott, Fiona McQuaid, et al.
Archives of Disease in Childhood. Education and Practice Edition
|
May 14, 2026
Fifteen-minute consultation: Early developmental impairment - an update on diagnostic tests
Frederica Sarantis, Francesca Seregni, Thiloka Ratnaike, et al.
Brain : a Journal of Neurology
|
November 27, 2013
Disease progression in patients with single, large-scale mitochondrial DNA deletions
John P Grady, Georgia Campbell, Thiloka Ratnaike, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2026
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants
Thiloka Ratnaike, Siddharth Ramanan, Nour Elkhateeb, et al.
BMJ (Clinical Research Ed.)
|
November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Katherine R Schon, Rita Horvath, Wei Wei, et al.
Orphanet Journal of Rare Diseases
|
August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Page
of 2