Suchergebnisse - "Tasic, Velibor"

PubPharm (357)

1

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract

enthalten in: Pediatric nephrology (Berlin, Germany) | 2024

von Kołbuc, M. | Kołek, M. | Motyka, R. | +25

2

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

enthalten in: Clinical genetics | 2024

von Riedhammer, K. | Simmendinger, H. | Tasic, V. | +12

3

Diversity of kidney care referral pathways in national child health systems of 48 European countries

enthalten in: Frontiers in pediatrics | 2024

von Tasic, V. | Edvardsson, V. | Preka, E. | +50

4

Development of a tool for predicting HNF1B mutations in children with congenital anomalies of the kidneys and urinary tract – a retrospective multicenter study

enthalten in: ResearchSquare.com | 2024

von Kolbuc, M. | Kolek, M. | Motyka, R. | +25

5

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract

enthalten in: Pediatric nephrology | 2024

von Kołbuc, M. | Kołek, M. | Motyka, R. | +25

6

Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?

enthalten in: Clinical Genetics | 2024

von Riedhammer, K. | Simmendinger, H. | Tasic, V. | +12

7

Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Martino, J. | Liu, Q. | Vukojevic, K. | +28

8

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

enthalten in: PRILOZI | 2023

von Teov, B. | Janchevska, A. | Beqiri-Jasari, A. | +3

9

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

enthalten in: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) | 2023

von Teov, B. | Janchevska, A. | Beqiri-Jasari, A. | +3

10

Recessive CHRM5 variant as a potential cause of neurogenic bladder

enthalten in: American journal of medical genetics. Part A | 2023

von Schneider, S. | Schierbaum, L. | Burger, W. | +15

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