Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature
Tasic, V, Mitrotti, A, Riepe, FG, Kulle, AE, Laban, N, Polenakovic, M, Plaseska-Karanfilska, D, Sanna-Cherchi, S, Kostovski, M, Gucev, Z
de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
Kocheva, SA, Gjorgjievska, M, Martinova, K, Antevska-Trajkova, Z, Jovanovska, A, Plaseska-Karanfilska, D
CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia
Kuzmanovska, M, Dimishkovska, M, Maleva Kostovska, I, Noveski, P, Sukarova Stefanovska, E, Plaseska-Karanfilska, D
Y Chromosome Single Nucleotide Polymorphisms Typing by SNaPshot MINISEQUENCING
Noveski, P, Trivodalieva, S, Efremov, G, Plaseska-Karanfilska, D
First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders
Maleva Kostovska, I, Noveski, P, Sukarova-Angelovska, E, Plaseska-Karanfilska, D
Prenatal Diagnosis in Macedonian Duchenne Muscular Dystrophy Families
Kocheva, S, Trivodalieva, S, Plaseska-Karanfilska, D, Vlaski-Jekic, S, Kuturec, M, Efremov, G
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
Gucev, Z, Kalcev, G, Laban, N, Bozinovski, Z, Popovski, N, Saveski, A, Daskalov, B, Plaseska-Karanfilska, D, Tasic, V
Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant
Noveski, P, Plaseski, T, Dimitrovska, M, Plaseska-Karanfilska, D
Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria
Karanfilovski, V, Severova Stojanoska, A, Ristovska, V, Gjorgjievska, J, Tasic, V, Arsov, T, Dzekova-Vidimliski, P, Plaseska-Karanfilska, D, Nikolov, I, Gjorgjievski, N
Two Brothers from Macedonia with Gitelman Syndrome
Janchevska, A, Tasic, V, Jordanova, O, Gucev, Z, Jenkins, L, Jovanovska, N, Plaseska-Karanfilska, D, Ashton, E, Bockenhauer, D
Cag Repeat Number in the Androgen Receptor Gene and Prostate Cancer
Madjunkova, S, Eftimov, A, Georgiev, V, Petrovski, D, Dimovski, A, Plaseska-Karanfilska, D