Zobrazeno 1 - 10
of 188
pro vyhledávání: '"Noveski P"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 51-56 (2023)
Sexual development (SD) is a complex process with strict spatiotemporal regulation of gene expression. Despite advancements in molecular diagnostics, disorders of sexual development (DSD) have a diagnostic rate of ~50%. Androgen insensitivity syndrom
Externí odkaz:
https://doaj.org/article/f4c7c783593746839b7c308f38000c62
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 69-76 (2019)
Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genit
Externí odkaz:
https://doaj.org/article/fcb73ea3025b415780ed35574c63f7ae
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
Publikováno v:
Balkan Journal of Medical Genetics, Vol 17, Iss 2, Pp 61-66 (2014)
Although several genetic causes of male infertility are known, the condition in around 60.0-75.0% of infertile male patients appears to be idiopathic. In some, genetic causes may be polygenic and require several low-penetrance genes to produce a phen
Externí odkaz:
https://doaj.org/article/f7fe67b5ca04439b9259376dcf16d559
Publikováno v:
Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 73-76 (2013)
Globozoospermia is a rare but severe teratozoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless s
Externí odkaz:
https://doaj.org/article/242ca799cf4d47f0a531ebe6b609f557
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
Publikováno v:
Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 31-34 (2012)
Externí odkaz:
https://doaj.org/article/d39f0512527d47fc9ec1a2096565fb7f
Autor:
Davalieva Katarina, Kiprijanovska S, Noveski P, Plaseska-Karanfilska D, Plaseski T, Kocevska B
Publikováno v:
Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 35-38 (2012)
Seminal plasma is a potential source of biomarkers for many disorders of the male reproductive system including male infertility. Knowledge of the peptide and protein components of seminal fluid is accumulating especially with the appearance of hight
Externí odkaz:
https://doaj.org/article/dfa941118a464c40a6f85499dd3dee88
Publikováno v:
Balkan Journal of Medical Genetics, Vol 13, Iss 1, Pp 9-16 (2010)
Externí odkaz:
https://doaj.org/article/ba355e387c5949ac8d6930cb79ff4325
Publikováno v:
Balkan Journal of Medical Genetics, Vol 10, Iss 1, Pp 19-24 (2007)
Externí odkaz:
https://doaj.org/article/023e65bf4fa94b3fb0de0a0d0a076c6e