Zobrazeno 1 - 10
of 70
pro vyhledávání: '"E. Sukarova-Angelovska"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecb4a29366df32d1754a4102a82a32a6
http://europepmc.org/articles/PMC8366479
http://europepmc.org/articles/PMC8366479
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf3df5f6419fbfb3bd263b106b99f194
https://doi.org/10.1007/s40556-018-0161-7
https://doi.org/10.1007/s40556-018-0161-7
Akademický článek
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Publikováno v:
Balkan Journal of Medical Genetics; 2021, Vol. 24 Issue 1, p89-93, 5p
Publikováno v:
Balkan Journal of Medical Genetics
Balkan Journal of Medical Genetics, Vol 17, Iss 1, Pp 23-30 (2014)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9c5ba6c7734e74198f2a8c2a19dca8
https://doi.org/10.2478/bjmg-2014-0021
https://doi.org/10.2478/bjmg-2014-0021
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 16, Iss 2, Pp 23-28 (2013)
Balkan Journal of Medical Genetics, Vol 16, Iss 2, Pp 23-28 (2013)
Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d52ebdc40b56d9ee46942be4cb4d7fa
https://doi.org/10.2478/bjmg-2013-0027
https://doi.org/10.2478/bjmg-2013-0027
Autor:
E., Sukarova-Angelovska1 ESukarova@doctor.com, K., Piperkova1, A., Sredovska1, G., Ilieva1, M., Kocova1
Publikováno v:
Contributions of Macedonian Academy of Sciences & Arts. 2007, Vol. 28 Issue 2, p87-97. 11p. 2 Color Photographs, 2 Charts.
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 15, Iss 1, Pp 37-44 (2012)
Balkan Journal of Medical Genetics, Vol 15, Iss 1, Pp 37-44 (2012)
The Many Faces of Oral-Facial-Digital SyndromeThe oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e9920e75a72098b76cce9e72a1a5880
https://doi.org/10.2478/v10034-012-0006-y
https://doi.org/10.2478/v10034-012-0006-y