Kairit Joost
Tartu, Estonia
Last Updated: 09/26/2026
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Found 11 publications
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Journal: Annals of neurology
Published: March 04, 2025
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Journal: The EMBO journal
Published: April 21, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Journal: BMC medical genetics
Published: April 08, 2020
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Journal: Metabolic brain disease
Published: April 25, 2017
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Journal: Genetic testing and molecular biomarkers
Published: October 28, 2015
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Journal: Neuromuscular disorders : NMD
Published: August 22, 2015
Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.
Journal: Pediatric blood & cancer
Published: June 18, 2015
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.
Journal: Advances in medical sciences
Published: November 14, 2013
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
Journal: Molecular syndromology
Published: June 11, 2012
The live-birth prevalence of mucopolysaccharidoses in Estonia.
Journal: Genetic testing and molecular biomarkers
Published: April 07, 2012
Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.
Journal: Journal of neuro-oncology
Published: February 16, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026