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Uşurelu Natalia30Boiciuc Kiril13Blăniţă Daniela12Egorov Vladimir8Andrieş Lucia8Groppa Stanislav8Ţurcan Doina8Revenco Ninel7Moşin Veaceslav6Palii Ina6Scurtu Vitalie6Dorif Alexandr6Duca Maria5Barbova Natalia5Sprincean Mariana5Badicean Dumitru5Gladun Sergiu5Hlistun Victoria5Barba Doina4Hadjiu Svetlana4Schiţco Olga4Strătilă Mihail4Halabudenco Elena4Rodoman Iulia4Coliban Iulia4Opalco Igor3Stamati Adela3Ţurcanu Adela3Şirocova Natalia3Iarmaliuc Olga3Eţco Ludmila2Ţurea Valentin2Garaeva Svetlana2Parii Angela2Scvortova Elena2Mişina Ana2Strătilă Radu2Florea Victoria2Postolati Galina2Nicolescu Alina Florica2Călcîi Cornelia2Lupuşor Nadejda2Deleanu Călin2Mocanu Natalia2Secrieru Viorica2Nour Veronica2Rotari Ion2Grosu Iulia2Dulap Dan-Dumitru2Muntean Angela2Boiciuc Constantin2Feghiu Ludmila2Grîu Corina2Scurtul Maria2Lefeber Dirk2Morava Eva2Țurcanu Tatiana2Bahnarel Ion1Varzari Alexandru1Privalova Elena1Railean Gheorghe1Lisnic Vitalie1Şciuca Svetlana1Rusu Ludmila1Tcaciuc Eugen1Vudu Lorina1Munteanu Diana1Mocan Elena1Răcilă Valentin1Tabac Elena1Leviţchi Alexei1Schmidt HartmutH.-J.1Burgoci Vasile1Selevestru Rodica1Scvorţova Ecaterina1Coreţchi Liuba1Postolachi Galina1Spătaru Aurelia1Olaru Tamara1Antohii Ana1Ţurcanu Tamara1Samohvalov Elena1Leviţchii Alexandr1Dobrovolskaia-Catrinici Aliona1Ababii Maria1Rotari Nicolae1Covanţev Serghei1Eremciuc Rodica1Plîngău Ecaterina1Darii Mariana1Gîncu Mariana1Palii Iona1Iarmoliuc Olga1Tănase Lilia1Pîrţu Lucia1Cumpătă Veronica1Todorov T.1Zibert A.1Gruzinschi Andriana1Racoviță Stela1Bejenari Ludmila1Chiriţă-Emandi Adela1Andreescu Nicoleta Ioana1Tutac Paul1Paul Corina1Velea Iulian Puiu1Pusztai Agneta Maria1Puiu Maria1Gaidarji Olga1Stambouli Danae1Tarcomnicu Isabela1Wevers Ron1Cuzneț Ludmila1Popescu Irina-Anca1Burac Nadejda1Rodenburg Richard1Hoffmann George Franz1Steinfeld Robert1Holling Tese1Kubisch Christian1Filipenko Maxim1
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Articole în reviste din RM - 42. Publicaţii la conferinţe din RM - 19. Publicaţii peste hotare - 8.
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2021 - 19

A rare mitochondrial disorder: Leigh syndrome – a case report
Ţurcan Doina , Uşurelu Natalia , Blăniţă Daniela , Sakara Viktoria K.
Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-2. Vizualizări-96
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Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-Linked thrombocytopenia
Ţurcan Doina1 , Andriesh Lucia P.2 , Dorif Alexandr21 , Sakara Viktoria K.12
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy
One Health and Risk Management
Nr. 2(3) / 2021 / ISSN 2587-3458 / ISSNe 2587-3466
Disponibil online 18 June, 2021. Descarcări-0. Vizualizări-85
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Biological markers of ionizing radiation
Coreţchi Liuba12 , Gîncu Mariana12 , Sakara Viktoria K.3 , Opalco Igor3 , Mishina Anna3 , Popescu Irina-Anca4 , Bahnarel Ion2 , Bejenari Ludmila3 , Gladun Sergiu3
1 National Agency for Public Health,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 Institute of Mother and Child,
4 National Institute of Public Health, Regional Centre of Public Health – Iasi
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-0. Vizualizări-130
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Cardiomyopathy secondary to Duchenne muscular dystrophy in children
Rodoman Iulia12 , Palii Ina21 , Sakara Viktoria K.1 , Gladun Sergiu12
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy
Moldovan Medical Journal
Nr. 2(64) / 2021 / ISSN 2537-6373 / ISSNe 2537-6381
Disponibil online 4 May, 2021. Descarcări-4. Vizualizări-114
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Classical galactosemia- a case report
Scurtul Maria1 , Boiciuc Chiril1 , Blăniţă Daniela1 , Sakara Viktoria K.1 , Tarcomnicu Isabela2 , Stambouli Danae2 , Nicolescu Alina Florica3 , Deleanu Călin34 , Gladun Sergiu1 , Uşurelu Natalia1
1 Institute of Mother and Child,
2 Cytogenomic Medical Laboratory,
3 “Petru Poni” Institute of Macromolecular Chemistry,
4 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-14. Vizualizări-125
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Clinical-genetic particularities of progressive muscular dystrophies in children
Sprincean Mariana12 , Hadjiu Svetlana12 , Racoviță Stela12 , Burac Nadejda1 , Sakara Viktoria K.2 , Lupuşor Nadejda1 , Grîu Corina1 , Cuznetz Ludmila12 , Feghiu Ludmila13 , Halabudenco Elena2 , Călcîi Cornelia12 , Revenco Ninel12
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Institute of Mother and Child,
3 National Epileptology Center of the Republic of Moldova
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 16 June, 2021. Descarcări-5. Vizualizări-195
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Collagen VI related muscle disorder. Ullrich congenital muscular dystrophy. Case report
Sacară Victoria12 , Dorif Alexandr1 , Uşurelu Natalia13 , Holling Tese4 , Kubisch Christian4
1 IMSP Institutul Mamei şi Copiluluii,
2 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“,
3 Centrul Naţional de Sănătate a Reproducerii şi Genetică Medicală,
4 Centrul Medical Universitar Hamburg-Eppendorf, Hamburg
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-3. Vizualizări-374
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Correlation between neurological impairment and liver status in Wilson’s disease
Ţurcanu Adela1 , Sakara Viktoria K.2 , Cumpătă Veronica1 , Tcaciuc Eugen1 , Lisnic Vitalie1
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Institute of Mother and Child
7th Congress of the Society of Neurologists Issue of the Republic of Moldova
Vol.64. 2021. Chişinău. ISSN 2537-6373 (Print).
Disponibil online 28 September, 2021. Descarcări-2. Vizualizări-39
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Determination of deletion carrier of exon 7 of the SMN1 gene by the QPCR method
Coliban Iulia , Uşurelu Natalia , Revenco Ninel , Sakara Viktoria K.
Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-3. Vizualizări-55
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Incidence rate of common hereditary neuromuscular diseases in the Republic of Moldova
Sakara Viktoria K.
Institute of Mother and Child
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 16 June, 2021. Descarcări-1. Vizualizări-102
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Leigh syndrome in a child – a case report
Ţurcan Doina , Uşurelu Natalia , Blăniţă Daniela , Sakara Viktoria K.
Institute of Mother and Child
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 16 June, 2021. Descarcări-5. Vizualizări-237
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miRNA profile in cardiomyopathies with dystrophine deficiency
Rodoman Iulia12 , Palii Ina12 , Dorif Alexandr1 , Sakara Viktoria K.1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-4. Vizualizări-101
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Molecular-genetic diagnosis of Wilson disease in Republic of Moldova
Hlistun Victoria , Boiciuc Chiril , Sakara Viktoria K.
Institute of Mother and Child
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-0. Vizualizări-281
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Multisystem affection in child: NARP syndrome – mitochondrial disease (case presentation)
Blăniţă Daniela1 , Ţurcan Doina1 , Garaeva Svetlana2 , Postolati Galina2 , Sakara Viktoria K.1 , Wevers Ron3 , Rodenburg Richard3 , Uşurelu Natalia1
1 Institute of Mother and Child,
2 Institute of Physiology and Sanocreatology,
3 Radboud University
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-6. Vizualizări-98
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SMA linked to unbalanced genomic changes: case report
Coliban Iulia , Blăniţă Daniela , Opalco Igor , Gladun Sergiu , Sakara Viktoria K. , Uşurelu Natalia
Institute of Mother and Child
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-3. Vizualizări-140
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The challenge in diagnosis of congenital disorders of glycosylation versus mitochondrial disorders: case report
Blăniţă Daniela1 , Boiciuc Chiril1 , Ţurcan Doina1 , Sakara Viktoria K.1 , Tsurya Valentin2 , Stamati Adela2 , Hadjiu Svetlana2 , Lefeber Dirk3 , Morava Eva4 , Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 Radboud University,
4 Tulane University School of Medicine
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-2. Vizualizări-138
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The screening by isoelectric focusing of transferrin for the diagnosis of congenital disorders of glycosylation
Blăniţă Daniela , Boiciuc Chiril , Ţurcan Doina , Sakara Viktoria K. , Uşurelu Natalia
Institute of Mother and Child
Moldovan Medical Journal
Nr. 4(64) / 2021 / ISSN 2537-6373 / ISSNe 2537-6381
Disponibil online 21 October, 2021. Descarcări-0. Vizualizări-49
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Velo-cardio-facial syndrome diagnostics in moldova by comparative expression qPCR
Dorif Alexandr , Sakara Viktoria K. , Palii Ina , Rodoman Iulia , Opalco Igor , Gladun Sergiu
Institute of Mother and Child
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-1. Vizualizări-128
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X-linked adrenoleukodystrophy in Republic of Moldova: case report
Blăniţă Daniela1 , Sakara Viktoria K.1 , Railean Gheorghe1 , Stamati Adela2 , Garaeva Svetlana3 , Postolachi Galina3 , Hoffmann George Franz4 , Steinfeld Robert5 , Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 Institute of Physiology and Sanocreatology,
4 University Childrens Hospital, Heidelberg,
5 University Pediatric Department from Göttingen
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-4. Vizualizări-74
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2020 - 7

Challenges in clinical considerations for congenital disorders of glycosylation
Blăniţă Daniela1 , Boiciuc Chiril1 , Samohvalov Elena2 , Sakara Viktoria K.1 , Barbova Natalia1 , Hadjiu Svetlana2 , Tsurya Valentin2 , Stamati Adela2 , Nicolescu Alina Florica3 , Deleanu Călin34 , Lefeber Dirk5 , Morava Eva6 , Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy,
4 “Petru Poni” Institute of Macromolecular Chemistry,
5 Radboud University,
6 Tulane University School of Medicine
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 7 September, 2020. Descarcări-16. Vizualizări-956
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