Tinatin Tkemaladze
Tbilisi, TB, Georgia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 35 publications
Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.
Journal: EMBO molecular medicine
Published: April 25, 2026
Cystic Fibrosis-Related Diabetes and Celiac Disease in a Paediatric CF Patient: Presence of CFRD-Associated SNPs rs7903146 (TT) and rs4077468 (GG).
Journal: Respirology case reports
Published: December 05, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
Journal: American journal of medical genetics. Part A
Published: April 29, 2025
Population-specific calibration and validation of an open-source bone age AI.
Journal: Scientific reports
Published: March 18, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 18, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals.
Journal: Orphanet journal of rare diseases
Published: January 28, 2025
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.
Journal: Nature genetics
Published: November 23, 2024
Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report.
Journal: Clinical medicine insights. Endocrinology and diabetes
Published: November 04, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Journal: Nature genetics
Published: October 21, 2024
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series.
Journal: Frontiers in genetics
Published: September 26, 2024
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Journal: Clinical genetics
Published: September 23, 2024
Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
Journal: American journal of medical genetics. Part A
Published: August 18, 2024
Last Updated: 09/26/2026