Faculty of Medicine
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Item type:Publication, RELATIONSHIP BETWEEN GRAF ANGLES AND FEMORAL HEAD COVERAGE IN HIP ULTRASOUND SCREENING FOR DEVELOPMENTAL HIP DYSPLASIA(Faculty of Medicine, Ss Cyril and Methodius University in Skopje, 2026-06-18); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, MECONIUM ASPIRATION SYNDROME AND HYDROCEPHALUS: A CASE REPORT(Faculty of Medicine, Ss Cyril and Methodius University in Skopje, 2026-03-24); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Renal Immaturity, Comorbidities and Outcomes in Neonatal Acute Kidney Injury(Walter de Gruyter GmbH, 2026-06-01); ; ; Martinovska, Iskra - Some of the metrics are blocked by yourconsent settings
Item type:Publication, THE JADASSOHN NEVUS IN A NEWBORN: A CASE STUDY FROM NORTH MACEDONIA(University Ss. Cyril and Methodius in Skopje, 2024); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, CONGENITAL CMV-INFECTION WITH SEVERE CLINICAL ISSUSES- A COMPELLING CASE REPORT IN NORTH MACEDONIA(University Ss. Cyril and Methodius in Skopje, 2024); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, PERFORATION OF SMALL INTESTINE IN PREMATURE NEONATE - POSTOPERATIVE MANAGEMENT CASE REPORT(University Ss. Cyril and Methodius in Skopje, 2025-04-30); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, AIR LEAK SYNDROME IN A NEWBORN WITH RESPIRATORY DISTRESS - CASE REPORT(University Ss. Cyril and Methodius in Skopje, 2024); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, INTERLEUKIN-18 AND EMPHYSEMA IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE(University Ss. Cyril and Methodius in Skopje, 2025-05-02); ; Jovanovski, Kristijan - Some of the metrics are blocked by yourconsent settings
Item type:Publication, THE IMPACT OF SCREEN TIME AND PARENTAL VERBAL STIMULATION ON SPEECH AND LANGUAGE DEVELOPMENT IN PRESCHOOL CHILDREN(Institute of Knowledge Management (Publications), 2025-12-23) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism(BMJ, 2026-05); Ademi, BlerimGNB1-related neurodevelopmental disorder is a rare developmental encephalopathy caused by pathogenic variants in GNB1 The disorder presents with early-onset developmental delay, hypotonia, movement disorders, seizures and/or epilepsy and varied electroencephalographic (EEG) findings, which may occur even in the absence of seizures.We report a male toddler with early-onset global developmental delay, hypotonia, dysmorphic features, bilateral sensorineural hearing loss, nystagmus, transient neonatal focal seizures and emerging EEG findings. Genetic testing identified a pathogenic GNB1 missense variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism.This case illustrates the clinical variability of GNB1 encephalopathy, expands the spectrum of reported inheritance patterns and highlights the importance of early genetic testing of infants with developmental delay and pathological EEG patterns. Recognition of the electroclinical patterns is essential for early diagnosis, genetic counselling and multidisciplinary management. The future expansion of longitudinal clinical and EEG data will be essential for prognosis and possible future therapeutic approaches.