20 results on '"Sukarova-Angelovska, Elena"'
Search Results
2. Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants
3. Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
4. Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes
5. Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome
6. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
7. Missense variant contribution to USP9X-female syndrome
8. Growing Prevalence and Incidence of Diabetes in Republic of Macedonia in the Past 5 Years Based on Data from the National System for Electronic Health Records
9. Two cases of non-syndromic congenital unilateral breast hypoplasia in one family
10. Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism
11. Genetics in Macedonia-Following the international trends
12. Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia
13. Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Republic of Macedonia
14. Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear
15. 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
16. Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia—a multiethnic country
17. Metabolic Setup and Risks in Obese Children/Metabolički Profil I Rizici Kod Gojazne Dece
18. A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome
19. Unique concurrent appearance of two rare conditions in a young girl: central precocious puberty due to hypothalamic hamartoma and uncommon type of diabetes
20. HLA-DR-DQ haplotypes and type 1 diabetes in Macedonia
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