학술논문

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발행년	- (예 : 2010-2015)

An integrated approach to the diagnosis of mental retardation linked to a fragile X chromosome

Academic Journal

Antsupova, Vita; Lastivka, Iryna; Sheiko, Larysa; Brisevac, Ljudmila; Khlunovska, Ludmila; Malieieva, Iryna; Ushko, Iana; Babintseva, Anastasiya

EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p190-p191, 2p. Supplement: 1

Web of Science JCR 저널정보 Find it@PNU

Advantages of the MS-MLPA in the diagnosis of Russell-Silver syndrome

Academic Journal

Lastivka, Iryna; Antsupova, Vita; Khlunovska, Ludmila; Sheiko, Larysa; Brisevac, Ljudmila; Babintseva, Anastasiya; Malieieva, Iryna; Ushko, Iana

EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p134-p134, 1p. Supplement: 1

Web of Science JCR 저널정보 Find it@PNU

Correlations of BHMT (rs3733890) and PAI-I (rs1799889) gene variants with blood parameters in pediatric patients with hereditary thrombophilia

Academic Journal

Gorovenko, Natalia; Fishchuk, Liliia; Vilchevska, Kateryna; Bakhchyvandzhy, Iryna; Viktoriia, Ianovska; Zakusylo, Andrii; Parkhomenko, Inna; Yeroshkina, Krystyna; Sheiko, Larysa; Rossokha, Zoia

EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p153-p153, 1p. Supplement: 1

Web of Science JCR 저널정보 Find it@PNU

The advantage of high throughput sequencing in the diagnosis of tuberous sclerosis. Clinical case

Academic Journal

Sheiko, Larysa; Lastivka, Iryna; Antsupova, Vita; Brisevac, Ljudmila; Khlunovska, Ludmila; Babintseva, Anastasiya; Malieieva, Iryna; Ushko, Iana; Godovanets, Oleksiy; Shapovalov, Olexiy; Polodienko, Olha; Davidiuk, Volodymyr

EUROPEAN JOURNAL OF HUMAN GENETICS; MAY 11 2023, 31 p196-p196, 1p. Supplement: 1

Full Text (ProQuest Central) Web of Science JCR 저널정보 Find it@PNU

The clinical case of inverted duplication and deletion of the short arm of chromosome 2: clinical manifestations, features of diagnosis verification

Academic Journal

Lastivka, Iryna; Antsupova, Vita; Khlunovska, Ludmila; Sheiko, Larysa; Babintseva, Anastasiya; Brisevac, Ljudmila; Malieieva, Iryna; Ushko, Iana; Davidiuk, Volodymyr; Godovanets, Oleksiy; Polodienko, Olha; Shapovalov, Olexiy

EUROPEAN JOURNAL OF HUMAN GENETICS; MAY 11 2023, 31 p230-p230, 1p. Supplement: 1

Full Text (ProQuest Central) Web of Science JCR 저널정보 Find it@PNU

Fatal case of congenital nephrotic syndrome in a newborn with two bialeal mutations in the NPHS1 gene

Academic Journal

Antsupova, Vita; Lastivka, Iryna; Khlunovska, Ludmila; Babintseva, Anastasiya; Sheiko, Larysa; Brisevac, Ljudmila; Ushko, Iana; Malieieva, Iryna; Godovanets, Oleksiy; Polodienko, Olha; Davidiuk, Volodymyr; Shapovalov, Olexiy

EUROPEAN JOURNAL OF HUMAN GENETICS; MAY 11 2023, 31 p120-p120, 1p. Supplement: 1

Full Text (ProQuest Central) Web of Science JCR 저널정보 Find it@PNU

Diagnosis and verification of the autosomal dominant form of Kabuki makeup syndrome in a child with congenital heart disease. Clinical case

Academic Journal

Lastivka, Iryna; Antsupova, Vita; Brisevac, Ljudmila; Sheiko, Larysa; Ushko, Iana; Davydiuk, Volodymyr

EUROPEAN JOURNAL OF HUMAN GENETICS; APR 2022, 30 SUPPL 1, p344-p345, 2p. Supplement: 1

Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Phelan-McDermid syndrome: the use of modern methods of cytogenetic examination in the diagnosis of autism spectrum disorders

Academic Journal

Sheiko, Larysa; Lastivka, Iryna; Antsupova, Vita; Ushko, Iana; Brisevac, Ljudmila; Davydiuk, Volodymyr

EUROPEAN JOURNAL OF HUMAN GENETICS; APR 2022, 30 SUPPL 1, p249-p249, 1p. Supplement: 1

Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Modern approaches to the diagnosis of Methylmalonic academia/aciduria

Academic Journal

Antsupova, Vita; Lastivka, Iryna; Sheiko, Larysa; Brisevac, Ljudmila; Ushko, Iana; Davydiuk, Volodymyr

EUROPEAN JOURNAL OF HUMAN GENETICS; APR 2022, 30 SUPPL 1, p211-p211, 1p. Supplement: 1

Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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