E-LIB Suche - Ergebnisse für: Plaseska-Karanfilska, D.

1

Two Brothers from Macedonia with Gitelman Syndrome:

Janchevska, A ; Tasic, V ; Jordanova, O...
Balkan Journal of Medical Genetics. 26 (2023) 1 - p. 69-74 , 2023

Link: https://doi.org/10.2478/..

2

Androgen Insensitivity Syndrome DUE to Non-Coding Variation..:

Noveski, P ; Plaseski, T ; Dimitrovska, M.
Balkan Journal of Medical Genetics. 26 (2023) 1 - p. 51-56 , 2023

Link: https://doi.org/10.2478/..

3

Chromosomal Abnormalities in Early Pregnancy Losses: A Stud..:

Bozhinovski, Gj ; Terzikj, M ; Kubelka-Sabit, K...
Balkan Journal of Medical Genetics. 26 (2023) 2 - p. 11-20 , 2023

Link: https://doi.org/10.2478/..

4

de novo TINF2 C.845G>A: Pathogenic Variant in Patient with ..:

Kocheva, SA ; Gjorgjievska, M ; Martinova, K...
Balkan Journal of Medical Genetics. 24 (2021) 2 - p. 89-93 , 2021

Link: https://doi.org/10.2478/..

5

Two years of newborn screening for cystic fibrosis in North..:

Fustik, S ; Anastasovska, V ; Plaseska-Karanfilska, D...
Balkan Journal of Medical Genetics. 24 (2021) 1 - p. 41-46 , 2021

Link: https://doi.org/10.2478/..

6

Duplication of the SOX3 gene in an sry-negative 46,XX male ..:

Tasic, V ; Mitrotti, A ; Riepe, FG...
Balkan Journal of Medical Genetics. 22 (2019) 1 - p. 81-88 , 2019

Link: https://doi.org/10.2478/..

7

P045 Results from a newborn screening (NBS) pilot study for..:

Fustik, S. ; Anastasovska, V. ; Plaseska-Karanfilska, D....
Journal of Cystic Fibrosis. 18 (2019) - p. S69 , 2019

Link: https://doi.org/10.1016/..

8

Novel genotype in two siblings with 5-α-reductase 2 deficie..:

Kocova, M ; Plaseska-Karanfilska, D ; Noveski, P.
Balkan Journal of Medical Genetics. 22 (2019) 2 - p. 69-76 , 2019

Link: https://doi.org/10.2478/..

9

Cystic fibrosis mutation spectrum in north macedonia: A ste..:

Terzic, M ; Jakimovska, M ; Fustik, S...
Balkan Journal of Medical Genetics. 22 (2019) 1 - p. 35-40 , 2019

Link: https://doi.org/10.2478/..

10

Characteristic diagnostic clues of metatropic dysplasia: Th..:

Gucev, Z ; Kalcev, G ; Laban, N...
Balkan Journal of Medical Genetics. 21 (2018) 2 - p. 35-38 , 2018

Link: https://doi.org/10.2478/..

11

Molecular and immunohistochemical characteristics of comple..:

Kubelka-Sabit, KB ; Prodanova, I ; Jasar, D...
Balkan Journal of Medical Genetics. 20 (2017) 1 - p. 27-34 , 2017

Link: https://doi.org/10.1515/..

12

Frameshift variant FANCL*c.1096_1099dupATTA is not associat..:

Pfeifer, K. ; Schürmann, P. ; Bogdanova, N....
Clinical Genetics. 90 (2016) 4 - p. 385-386 , 2016

Link: https://doi.org/10.1111/..

13

CYP2D6 allele distribution in Macedonians, Albanians and Ro..:

Kuzmanovska, M ; Dimishkovska, M ; Maleva Kostovska, I...
Balkan Journal of Medical Genetics. 18 (2015) 2 - p. 49-58 , 2015

Link: https://doi.org/10.1515/..

14

Study of Three Single Nucleotide Polymorphisms in the Slc6a..:

Noveski, P. ; Mircevska, M. ; Plaseski, T...
Balkan Journal of Medical Genetics. 17 (2014) 2 - p. 61-66 , 2014

Link: https://doi.org/10.2478/..

15

NGS NominatedCELA1,HSPG2, andKCNK5as Candidate Genes for Pr..:

Toncheva, D. ; Mihailova-Hristova, M. ; Vazharova, R....
BioMed Research International. 2014 (2014) - p. 1-7 , 2014

Link: https://doi.org/10.1155/..