E-LIB Suche - Ergebnisse für: Cuturilo, Goran

1

Speech Sounds Production, Narrative Skills, and Verbal Memo..:

Rakonjac, Marijana ; Cuturilo, Goran ; Kovacevic-Grujicic, Natasa...
Children. 11 (2024) 4 - p. 489 , 2024

Link: https://doi.org/10.3390/..

2

A novel splice-site FHOD3 founder variant is a common cause..:

Vodnjov, Nina ; Toplišek, Janez ; Maver, Aleš...
PLOS ONE. 18 (2023) 12 - p. e0294969 , 2023

Link: https://doi.org/10.1371/..

3

The landscape of Mucopolysaccharidosis in Southern and East..:

Tylki-Szymańska, Anna ; Almássy, Zsuzsanna ; Christophidou-Anastasiadou, Violetta...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

4

Inherited variants in CHD3 show variable expressivity in Sn..:

van der Spek, Jet ; den Hoed, Joery ; Snijders Blok, Lot...
Genetics in Medicine. 24 (2022) 6 - p. 1283-1296 , 2022

Link: https://doi.org/10.1016/..

5

Ring chromosome 20: A further contribution to the delineati..:

Borkovic, Milan ; Cuturilo, Goran ; Cerovac, Natasa
Vojnosanitetski pregled; Military Medical and Pharmaceutical Journal of Serbia. 79 (2022) 2 - p. 196-200 , 2022

Link: https://doi.org/10.2298/..

6

Genetic evaluation of newborns with critical congenital hea..:

Miletic, Aleksandra ; Stojanovic, Jelena Ruml ; Parezanovic, Vojislav...
European Journal of Pediatrics. 180 (2021) 10 - p. 3219-3227 , 2021

Link: https://doi.org/10.1007/..

7

The clinical significance of A2ML1 variants in Noonan syndr..:

Brinkmann, Julia ; Lissewski, Christina ; Pinna, Valentina...
European Journal of Human Genetics. 29 (2020) 3 - p. 524-527 , 2020

Link: https://doi.org/10.1038/..

8

Mowat-Wilson syndrome: growth charts:

Ivanovski, Ivan ; Djuric, Olivera ; Broccoli, Serena...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

9

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–B..:

Oliva-Teles, Natália ; de Stefano, Maria Chiara ; Gallagher, Louise...
International Journal of Environmental Research and Public Health. 17 (2020) 24 - p. 9253 , 2020

Link: https://doi.org/10.3390/..

10

Rare missense TUBGCP5 gene variant in a patient with primar..:

Maver, Aleš ; Čuturilo, Goran ; Kovanda, Anja..
European Journal of Medical Genetics. 62 (2019) 12 - p. 103598 , 2019

Link: https://doi.org/10.1016/..

11

GLUT1 deficiency syndrome: A case report with a novel SLC2A..:

Ivancevic, Nikola ; Cerovac, Natasa ; Nikolic, Blazo...
Vojnosanitetski pregled; Military Medical and Pharmaceutical Journal of Serbia. 76 (2019) 5 - p. 543-546 , 2019

Link: https://doi.org/10.2298/..

12

SU20AUTISTIC TRAITS AND COGNITIVE DYSFUNCTIONS IN CHILDREN ..:

Mihaljevic, Marina ; Pejovic-Milovancevic, Milica ; Janeski, Hristina...
European Neuropsychopharmacology. 29 (2019) - p. S1278-S1279 , 2019

Link: https://doi.org/10.1016/..

13

Diagnostic and Clinical Utility of Clinical Exome Sequencin..:

Stojanovic, Jelena Ruml ; Miletic, Aleksandra ; Peterlin, Borut...
Journal of Child Neurology. 35 (2019) 2 - p. 116-131 , 2019

Link: https://doi.org/10.1177/..

14

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality..:

Loges, Niki T. ; Antony, Dinu ; Maver, Ales...
The American Journal of Human Genetics. 103 (2018) 6 - p. 995-1008 , 2018

Link: https://doi.org/10.1016/..

15

PITX2 deficiency and associated human disease: insights fro..:

Hendee, Kathryn E ; Sorokina, Elena A ; Muheisen, Sanaa S...
Human Molecular Genetics. 27 (2018) 10 - p. 1675-1695 , 2018

Link: https://doi.org/10.1093/..