Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome

Autor: Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, Jashari H

Publikováno v: Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 91-94 (2016)

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the p

Externí odkaz: https://doaj.org/article/c73c456821b04e29850a11622026eaf9

CARDIORENAL SYNDROME AND COVID-19.

Autor: Rudhani I; Medical Faculty, University of Pristina 'Hasan Prishtina', Circle n.n. 10000, Pristina, Clinic of Nephrology and Hemodialysis, UCCK Kosovo Hospital, Kosovo., Morina N; Medical Faculty, University of Pristina 'Hasan Prishtina', Circle n.n. 10000, Pristina, Clinic of Nephrology and Hemodialysis, UCCK Kosovo Hospital, Kosovo., Spahiu L; Medical Faculty, University of Pristina 'Hasan Prishtina', Circle n.n. 10000, Pristina, Clinic of Nephrology and Hemodialysis, UCCK Kosovo Hospital, Kosovo., Elezi G; Medical Faculty, University of Pristina 'Hasan Prishtina', Circle n.n. 10000, Pristina, Clinic of Nephrology and Hemodialysis, UCCK Kosovo Hospital, Kosovo., Avdulahu A; Medical Faculty, University of Pristina 'Hasan Prishtina', Circle n.n. 10000, Pristina, Clinic of Nephrology and Hemodialysis, UCCK Kosovo Hospital, Kosovo., Avdullahu A; Medical Faculty, University of Pristina 'Hasan Prishtina', Circle n.n. 10000, Pristina, Clinic of Nephrology and Hemodialysis, UCCK Kosovo Hospital, Kosovo., Berbatovci-Ukimeraj M; Medical Faculty, University of Pristina 'Hasan Prishtina', Circle n.n. 10000, Pristina, Clinic of Nephrology and Hemodialysis, UCCK Kosovo Hospital, Kosovo.

Publikováno v: Georgian medical news [Georgian Med News] 2023 Sep (342), pp. 54-57.

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

Autor: Spahiu L; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo (Serbia and Montenegro)., Sayer JA; Newcastle Biomedical Research Centre, NIHR, Newcastle upon Tyne, Tyne and Wear, UK.; Renal Services, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle, Tyne and Wear, NE7 7DN, UK.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, Tyne and Wear, NE1 3BZ, UK., Behluli E; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo (Serbia and Montenegro)., Liehr T; Institute of Human Genetics, Jena University Hospital, Jena, D-07747, Germany., Temaj G; Faculty of Pharmacy, College UBT, Prishtina, Kosovo (Serbia and Montenegro).

Publikováno v: F1000Research [F1000Res] 2023 Mar 31; Vol. 11, pp. 388. Date of Electronic Publication: 2023 Mar 31 (Print Publication: 2022).

Targeted Treatment and Immunotherapy in High-risk and Relapsed/ Refractory Pediatric Acute Lymphoblastic Leukemia.

Autor: Graiqevci-Uka V; Department of Pediatrics, University Clinical Center, Prishtina, Kosovo., Behluli E; Department of Pediatrics, University Clinical Center, Prishtina, Kosovo., Spahiu L; Department of Pediatrics, University Clinical Center, Prishtina, Kosovo., Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany., Temaj G; Faculty of Pharmacy, UBT College, Prishtina, Kosovo.

Publikováno v: Current pediatric reviews [Curr Pediatr Rev] 2023; Vol. 19 (2), pp. 150-156.

A Case of Successfully Implanted Dual Chamber Pacemaker in a Young Patient with Dextrocardia and Sick Sinus Syndrome.

Autor: Bakalli A; Clinic of Invasive Cardiology and Cardiosurgery, University Clinical Center of Kosova and Medical Faculty, University of Prishtina, Pristina, Kosovo., Jashari I; Clinic of Cardiology, University Clinical Center of Kosova, Pristina, Kosovo., Krasniqi X; Clinic of Invasive Cardiology and Cardiosurgery, University Clinical Center of Kosova and Medical Faculty, University of Prishtina, Pristina, Kosovo., Spahiu L; Pediatric Clinic, University Clinical Center of Kosova and Medical Faculty, University of Prishtina, Rr.Nëna Tereza pn, 10000 Pristina, Kosovo.

Publikováno v: Clinical medicine insights. Case reports [Clin Med Insights Case Rep] 2021 Jul 02; Vol. 14, pp. 11795476211017733. Date of Electronic Publication: 2021 Jul 02 (Print Publication: 2021).