Detalhe da pesquisa
1.
Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature.
BMC Endocr Disord
; 15: 82, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26666878
2.
Clinical practice: experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia - a multiethnic country.
Eur J Pediatr
; 174(4): 443-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192932
3.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG Adv
; 5(3): 100309, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38751117
4.
Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants
Balkan Med J
; 40(4): 252-261, 2023 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37073110
5.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Eur J Hum Genet
; 31(11): 1228-1236, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879111
6.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294868
7.
Unique concurrent appearance of two rare conditions in a young girl: central precocious puberty due to hypothalamic hamartoma and uncommon type of diabetes.
J Pediatr Endocrinol Metab
; 24(9-10): 815-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22145483
8.
Missense variant contribution to USP9X-female syndrome.
NPJ Genom Med
; 5(1): 53, 2020 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33298948
9.
Genetics in Macedonia-Following the international trends.
Mol Genet Genomic Med
; 6(1): 9-14, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460367
10.
Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism.
Endocr Connect
; 7(2): 278-285, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29335252
11.
Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia.
Int J Neonatal Screen
; 3(3)2017 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33535365
12.
Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear.
Mol Cytogenet
; 9: 38, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148406
13.
Metabolic Setup and Risks in Obese Children.
J Med Biochem
; 34(1): 31-37, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28356821
14.
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.
J Appl Genet
; 54(1): 43-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22993021
15.
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Orphanet J Rare Dis
; 8: 75, 2013 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23679990
16.
HLA-DR-DQ haplotypes and type 1 diabetes in Macedonia.
Hum Immunol
; 70(6): 461-3, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19332095