Nataliya Tkachenko
AuthID: R-00K-YB2
11
TITLE: Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service
AUTHORS: Dantas, Mayla A. A.; Da Silva, Jorge Diogo; Tkachenko, Nataliya; Paneque, Milena ;
PUBLISHED: 2022, SOURCE: JOURNAL OF COMMUNITY GENETICS
AUTHORS: Dantas, Mayla A. A.; Da Silva, Jorge Diogo; Tkachenko, Nataliya; Paneque, Milena ;
PUBLISHED: 2022, SOURCE: JOURNAL OF COMMUNITY GENETICS
12
TITLE: Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication
AUTHORS: Da Silva, Jorge Diogo; Gonzaga, Diana; Barreta, Ana; Correia, Hildeberto; Fortuna, Ana Maria; Soares, Ana Rita; Tkachenko, Nataliya;
PUBLISHED: 2022, SOURCE: BIOMEDICINES, VOLUME: 10, ISSUE: 12
AUTHORS: Da Silva, Jorge Diogo; Gonzaga, Diana; Barreta, Ana; Correia, Hildeberto; Fortuna, Ana Maria; Soares, Ana Rita; Tkachenko, Nataliya;
PUBLISHED: 2022, SOURCE: BIOMEDICINES, VOLUME: 10, ISSUE: 12
13
TITLE: Papillary thyroid cancer in a patient with germline CHEK2 mutation: A case report
AUTHORS: Santos, TD; Tkachenko, N; de Carvalho, AC;
PUBLISHED: 2021, SOURCE: ANNALES D ENDOCRINOLOGIE, VOLUME: 82, ISSUE: 6
AUTHORS: Santos, TD; Tkachenko, N; de Carvalho, AC;
PUBLISHED: 2021, SOURCE: ANNALES D ENDOCRINOLOGIE, VOLUME: 82, ISSUE: 6
14
TITLE: Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly
AUTHORS: Kévin Uguen; Kilannin Krysiak; Séverine Audebert‐Bellanger; Sylvia Redon; Caroline Benech; Eléonore Viora‐Dupont; Frederic Tran Mau‐Them; Sophie Rondeau; Ibrahim Elsharkawi; Jorge L Granadillo; Julie Neidich; Celia Azevedo Soares; Natáliya Tkachenko; Shivarajan M. Amudhavalli; Kendra Engleman; Anne Boland; Jean‐François Deleuze; Stéphane Bezieau; Sylvie Odent; Annick Toutain; ...More
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 4
AUTHORS: Kévin Uguen; Kilannin Krysiak; Séverine Audebert‐Bellanger; Sylvia Redon; Caroline Benech; Eléonore Viora‐Dupont; Frederic Tran Mau‐Them; Sophie Rondeau; Ibrahim Elsharkawi; Jorge L Granadillo; Julie Neidich; Celia Azevedo Soares; Natáliya Tkachenko; Shivarajan M. Amudhavalli; Kendra Engleman; Anne Boland; Jean‐François Deleuze; Stéphane Bezieau; Sylvie Odent; Annick Toutain; ...More
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 4
15
TITLE: Rare SUZ12 variants commonly cause an overgrowth phenotype Full Text
AUTHORS: Cyrus, SS; Cohen, ASA; Agbahovbe, R; Avela, K; Yeung, KS; Chung, BHY; Luk, HM; Tkachenko, N; Choufani, S; Weksberg, R; Lopez Rangel, E; Brown, K; Saenz, MS; Svihovec, S; McCandless, SE; Bird, LM; Garcia, AG; Gambello, MJ; McWalter, K; Schnur, RE; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, VOLUME: 181, ISSUE: 4
AUTHORS: Cyrus, SS; Cohen, ASA; Agbahovbe, R; Avela, K; Yeung, KS; Chung, BHY; Luk, HM; Tkachenko, N; Choufani, S; Weksberg, R; Lopez Rangel, E; Brown, K; Saenz, MS; Svihovec, S; McCandless, SE; Bird, LM; Garcia, AG; Gambello, MJ; McWalter, K; Schnur, RE; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, VOLUME: 181, ISSUE: 4
16
TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I ; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I ; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
17
TITLE: Early results of next-gen cytogenetics implementation in Portugal
AUTHORS: Dezső David; João Freixo; Bárbara Marques; Inês Carvalho; Natália Tkachenko; Natália Oliva Teles; Mariana Marques; Manuela Cardoso; Joana Fino; Cristina Alves; Ana Fortuna; Dória Sófia ; Carla Pinto Moura ; Hildeberto Correia; Isabel Marques Carreira; Joaquim Sá; Rui M Gonçalves; João Lavinha; Teresa Kay; Michael Talkowski; ...More
PUBLISHED: 2016, SOURCE: European Journal Human Genetics Conference, 21-24 May 2016
AUTHORS: Dezső David; João Freixo; Bárbara Marques; Inês Carvalho; Natália Tkachenko; Natália Oliva Teles; Mariana Marques; Manuela Cardoso; Joana Fino; Cristina Alves; Ana Fortuna; Dória Sófia ; Carla Pinto Moura ; Hildeberto Correia; Isabel Marques Carreira; Joaquim Sá; Rui M Gonçalves; João Lavinha; Teresa Kay; Michael Talkowski; ...More
PUBLISHED: 2016, SOURCE: European Journal Human Genetics Conference, 21-24 May 2016
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Handle18
TITLE: Citogenética de Próxima Geração: Implementação e primeiros resultados em Portugal
AUTHORS: Dezső David; Natália Oliva Teles; João Freixo; ML Fonseca e Silva; Ana Fortuna; Natália Tkachenko; Inês Carvalho; Mariana Marques; Manuela Cardoso; Joana Fino; Bárbara Marques; Ana C Alves; Sófia Dória ; Carla Pinto de Moura; Isabel Marques Carreira; Hildeberto Correia; Rui M Gonçalves; João Lavinha; Teresa Kay; Michael Talkowski; ...More
PUBLISHED: 2016, SOURCE: XLV Conferências de Genética Doutor Jacinto Magalhães “Genética Cardiovascular: da Clínica ao Laboratório”, 26 fevereiro 2016
AUTHORS: Dezső David; Natália Oliva Teles; João Freixo; ML Fonseca e Silva; Ana Fortuna; Natália Tkachenko; Inês Carvalho; Mariana Marques; Manuela Cardoso; Joana Fino; Bárbara Marques; Ana C Alves; Sófia Dória ; Carla Pinto de Moura; Isabel Marques Carreira; Hildeberto Correia; Rui M Gonçalves; João Lavinha; Teresa Kay; Michael Talkowski; ...More
PUBLISHED: 2016, SOURCE: XLV Conferências de Genética Doutor Jacinto Magalhães “Genética Cardiovascular: da Clínica ao Laboratório”, 26 fevereiro 2016
INDEXED IN: Handle
Handle19
TITLE: Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal Rearrangements
AUTHORS: Dezső David; João Freixo; Inês Carvalho; Natalia Tkachenko; Natália Oliva Teles; Bárbara Marques; Ana C Alves; Ana Fortuna; Dória Sofia ; Carla Pinto de Moura; Isabel Gaspar; Isabel Marques Carreira; Joaquim Sá; Rui Gonçalves; João Lavinha; Teresa Kay; Hildeberto Correia; Michael E Talkowski; Cynthia C Morton;
PUBLISHED: 2015, SOURCE: 19ª Reunião da Sociedade Portuguesa de Genética Humana, 5-7 novembro 2015
AUTHORS: Dezső David; João Freixo; Inês Carvalho; Natalia Tkachenko; Natália Oliva Teles; Bárbara Marques; Ana C Alves; Ana Fortuna; Dória Sofia ; Carla Pinto de Moura; Isabel Gaspar; Isabel Marques Carreira; Joaquim Sá; Rui Gonçalves; João Lavinha; Teresa Kay; Hildeberto Correia; Michael E Talkowski; Cynthia C Morton;
PUBLISHED: 2015, SOURCE: 19ª Reunião da Sociedade Portuguesa de Genética Humana, 5-7 novembro 2015
INDEXED IN: Handle
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