Nataliya P. Tkachenko
Porto, Portugal
Last Updated: 09/26/2026
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Found 18 publications
PRG4-Related Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Mimicking Juvenile Idiopathic Arthritis: A Case-Based Review.
Journal: International journal of molecular sciences
Published: March 10, 2026
"Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene".
Journal: Clinics and research in hepatology and gastroenterology
Published: October 19, 2024
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating.
Journal: Journal of medical genetics
Published: May 22, 2024
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Journal: Endocrine, metabolic & immune disorders drug targets
Published: July 15, 2023
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.
Journal: Endocrine, metabolic & immune disorders drug targets
Published: July 12, 2023
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Journal: Pediatric research
Published: May 20, 2023
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: March 15, 2023
Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.
Journal: Frontiers in neurology
Published: February 08, 2023
Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions.
Journal: Genetics in medicine open
Published: November 22, 2022
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Journal: Biomedicines
Published: November 16, 2022
Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service.
Journal: Journal of community genetics
Published: August 21, 2022
Last Updated: 09/26/2026