Nataliya Tkachenko
AuthID: R-00K-YB2
1
TITLE: "Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene" Full Text
AUTHORS: Correia, Sandra Ribeiro; Guedes, Tiago Pereira; Da Silva, Jorge Diogo; Tkachenko, Nataliya; Pedroto, Isabel;
PUBLISHED: 2025, SOURCE: CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY, VOLUME: 49, ISSUE: 1
AUTHORS: Correia, Sandra Ribeiro; Guedes, Tiago Pereira; Da Silva, Jorge Diogo; Tkachenko, Nataliya; Pedroto, Isabel;
PUBLISHED: 2025, SOURCE: CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY, VOLUME: 49, ISSUE: 1
2
TITLE: Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS
3
TITLE: Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication Full Text
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla ; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo ;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla ; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo ;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
4
TITLE: Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases
AUTHORS: Isabel Serra Nunes; Jorge Diogo Da Silva; Maria Abreu; Ana Catarina Prior; Ana Fortuna; Natalia Tkachenko; Ana Rita Soares;
PUBLISHED: 2024, SOURCE: Acta Scientific Paediatrics
AUTHORS: Isabel Serra Nunes; Jorge Diogo Da Silva; Maria Abreu; Ana Catarina Prior; Ana Fortuna; Natalia Tkachenko; Ana Rita Soares;
PUBLISHED: 2024, SOURCE: Acta Scientific Paediatrics
5
TITLE: 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)
AUTHORS: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 1
AUTHORS: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 1
6
TITLE: An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy
AUTHORS: Pereira, Angela; Tkachenko, Nataliya; Fortuna, Ana Maria; Alonso, Isabel; Cardoso, Marcio; Da Silva, Jorge Diogo;
PUBLISHED: 2023, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 44, ISSUE: 9
AUTHORS: Pereira, Angela; Tkachenko, Nataliya; Fortuna, Ana Maria; Alonso, Isabel; Cardoso, Marcio; Da Silva, Jorge Diogo;
PUBLISHED: 2023, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 44, ISSUE: 9
7
TITLE: Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk Full Text
AUTHORS: Sousa, Eulalia; Abreu, Maria; Tkachenko, Nataliya; Rocha, Joao; Reis, Claudia Falcao;
PUBLISHED: 2023, SOURCE: FRONTIERS IN NEUROLOGY, VOLUME: 14
AUTHORS: Sousa, Eulalia; Abreu, Maria; Tkachenko, Nataliya; Rocha, Joao; Reis, Claudia Falcao;
PUBLISHED: 2023, SOURCE: FRONTIERS IN NEUROLOGY, VOLUME: 14
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TITLE: Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
AUTHORS: Ângela Pereira; Jorge Diogo da Silva; Ana Rita Soares; Arlindo Guimas; Sara Rocha; Márcio Cardoso; Cristina Garrido; Célia Azevedo Soares; Isabel Nunes; Ana Maria Fortuna; Dulce Quelhas; Sónia Figueiroa; Rosa Ribeiro; Manuela Santos; Esmeralda Martins; Nataliya Tkachenko;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
AUTHORS: Ângela Pereira; Jorge Diogo da Silva; Ana Rita Soares; Arlindo Guimas; Sara Rocha; Márcio Cardoso; Cristina Garrido; Célia Azevedo Soares; Isabel Nunes; Ana Maria Fortuna; Dulce Quelhas; Sónia Figueiroa; Rosa Ribeiro; Manuela Santos; Esmeralda Martins; Nataliya Tkachenko;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
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TITLE: 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
AUTHORS: Jorge Diogo Da Silva; Ana Rita Soares; Ana Maria Fortuna; Nataliya Tkachenko;
PUBLISHED: 2023, SOURCE: Genetics in Medicine Open, VOLUME: 1, ISSUE: 1
AUTHORS: Jorge Diogo Da Silva; Ana Rita Soares; Ana Maria Fortuna; Nataliya Tkachenko;
PUBLISHED: 2023, SOURCE: Genetics in Medicine Open, VOLUME: 1, ISSUE: 1
10
TITLE: Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei
AUTHORS: Silva, JS; Alves, JE; Soares, CA ; Tkachenko, N; Garrido, C;
PUBLISHED: 2022, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 31, ISSUE: 1
AUTHORS: Silva, JS; Alves, JE; Soares, CA ; Tkachenko, N; Garrido, C;
PUBLISHED: 2022, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 31, ISSUE: 1
