Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|May 12, 2025
Clinical and Genetic Landscape of IGHMBP2-Related Disorders: From Novel Variants to Phenotypic InsightsTinatin Tkemaladze, Kakha Bregvadze, Luka Abashishvili, et al.
Clinical Genetics|June 19, 2024
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variantNicolai Kohring Tvergaard, Tinatin Tkemaladze, Tommy Stödberg, et al.
Frontiers in Genetics|December 25, 2024
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report seriesKakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, et al.
SAGE Open Medical Case Reports|June 5, 2023
Additional evidence on the phenotype produced by combination ofTinatin Tkemaladze, Eka Kvaratskhelia, Mariam Ghughunishvili, et al.
Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.
Neurogenetics|February 2, 2022
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case seriesAnthony Cheung, Catherine Argyriou, Christine Yergeau, et al.
Clinical Genetics|December 26, 2024
Next Generation Phenotyping and Synthetic Faces in Coffin Siris SyndromeQuentin Hennocq, Olivier Lienhard, Dipesh Rao, et al.
Scientific Reports|September 23, 2025
Population-specific calibration and validation of an open-source bone age AISebastian Rassmann, Luka Abashishvili, Elene Melikidze, et al.
American Journal of Medical Genetics. Part A|July 4, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2GeneNatasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.
Pageof 3