Zobrazeno 1 - 10
of 146
pro vyhledávání: '"E. Sukarova"'
Autor:
C. García-Fernández, N. Font-Porterias, V. Kučinskas, E. Sukarova-Stefanovska, H. Pamjav, H. Makukh, B. Dobon, J. Bertranpetit, M. G. Netea, F. Calafell, D. Comas
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-2 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/6e2761bebe624576a99a4325e0f4d7a7
Publikováno v:
Balkan Journal of Medical Genetics, Vol 17, Iss 1, Pp 23-30 (2014)
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seiz
Externí odkaz:
https://doaj.org/article/9e9e381a33cb4958a0486082c7bf8e32
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 24, Iss 1, Pp 89-94 (2021)
Balkan Journal of Medical Genetics, Vol 24, Iss 1, Pp 89-94 (2021)
The knowledge about genetic involvement in neurodevelopmental disorders, and especially in autism, is currently rising. To date, more than 100 gene mutations related to autistic syndromes have been described. Some disorders that affect multiple famil
Akademický článek
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Akademický článek
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Autor:
T. Hristova-Dimkovska, M. Kocova, E. Sukarova-Angelovska, G. Ilieva, E. Sukarova-Stefanovska, S. Kostadinova-Kunovska
Publikováno v:
Journal of Fetal Medicine. :133-137
Reciprocal chromosomal rearrangements, de novo or inherited, often raise a concern about the foetal health and outcome of the affected pregnancies. The size and origin of the translocated chromosomes could be variable. Cryptic translocations often re
Autor:
E. Sukarova-Stefanovska, Halyna Makukh, Neus Font-Porterias, Begoña Dobon, Carla García-Fernández, Horolma Pamjav, Mihai G. Netea, David Comas, Francesc Calafell, Vaidutis Kučinskas, Jaume Bertranpetit
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-2 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Autor:
Horolma Pamjav, Halyna Makukh, Mihai G. Netea, Carla García-Fernández, Begoña Dobon, Francesc Calafell, Neus Font-Porterias, Vaidutis Kučinskas, David Comas, E. Sukarova-Stefanovska, Jaume Bertranpetit
Publikováno v:
Scientific Reports
Scientific Reports, 10, 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientific Reports, 10
Scientific reports, Berlin : Nature Research, 2020, vol. 10, iss. 1, art. no. 14464, p. [1-10]
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports, 10, 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientific Reports, 10
Scientific reports, Berlin : Nature Research, 2020, vol. 10, iss. 1, art. no. 14464, p. [1-10]
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
The Roma population is a European ethnic minority characterized by recent and multiple dispersals and founder effects. After their origin in South Asia around 1,500 years ago, they migrated West. In Europe, they diverged into ethnolinguistically dist
Akademický článek
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Autor:
S. Fustik, T Jakovska, M Terzic, Milena Jakimovska, Dijana Plaseska-Karanfilska, E Sukarova-Stefanovska
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 35-40 (2019)
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 35-40 (2019)
The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the CFTR gene. The knowledge of CFTR mutations present in certain population is important for designing a simple,