Výsledky vyhledávání - "Stefanovska, E."

Akademický článek

Cystic fibrosis mutation spectrum in north macedonia: A step toward personalized therapy

Autor: Terzic M, Jakimovska M, Fustik S, Jakovska T, Sukarova-Stefanovska E, Plaseska-Karanfilska D

Publikováno v: 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,

Externí odkaz: https://doaj.org/article/c5392eab85834d198b8e63ced517a705

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia

Autor: Kuzmanovska M, Dimishkovska M, Maleva Kostovska I, Noveski P, Sukarova Stefanovska E, Plaseska-Karanfilska D

Publikováno v: Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 49-58 (2015)

Cytochrome P450 2D6 (CYP2D6) is an enzyme of great importance for the metabolism of clinically used drugs. More than 100 variants of the CYP2D6 gene have been identified so far. The aim of this study was to investigate the allele distribution of CYP2

Externí odkaz: https://doaj.org/article/f6b724572dd044c49bf5b989d61d536e

Zobrazit plný text záznamu

Akademický článek

Rapid and non Invasive Prenatal Diagnosis

Autor: Plaseska-Karanfilska Dijana, Sukarova-Stefanovska E, Kocheva S, Maleva I, Noveski P, Kiprijanovska S, Stankova K, Dimcev P, Madjunkov M, Madjunkova S

Publikováno v: Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 39-43 (2012)

Externí odkaz: https://doaj.org/article/0f0edd8ebc9744a392b999e5d64cdef1

Zobrazit plný text záznamu

Akademický článek

GJB2 Mutations in Non Syndromic Hearing Loss in the Republic of Macedonia

Autor: Stefanovska E, Momirovska A, Cakar M, Efremov G

Publikováno v: Balkan Journal of Medical Genetics, Vol 12, Iss 2, Pp 11-16 (2009)

Externí odkaz: https://doaj.org/article/b013794fe61049abb54078bf1ab33013

Zobrazit plný text záznamu

Akademický článek

Molecular Characterization of Hemophilia a in Southeast Bulgaria

Autor: Sukarova Stefanovska E, Tchakarova P, Petkov G, Efremov G

Publikováno v: Balkan Journal of Medical Genetics, Vol 11, Iss 1, Pp 55-60 (2008)

Externí odkaz: https://doaj.org/article/2db0b206ca6b4228a7ce1c71e314aac3

Zobrazit plný text záznamu

Akademický článek

Study of the Hepatitis C Virus in the Republic of Macedonia

Autor: Plaseska-Karanfilska Dijana, Kiprijanovska S, Sukarova-Stefanovska E, Noveski P, Polenakovic M, Chalovska V

Publikováno v: Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 67-69 (2012)

Hepatitis C virus (HCV) is a major public health problem. It is a leading cause of chronic liver disease and the most common indication for liver transplantation. The therapy for eradication of HCV infection is successful in only 50.0-80.0% of patien

Externí odkaz: https://doaj.org/article/9cc2294eab0749c7b3d4e71180c0a34d

Zobrazit plný text záznamu