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Ubeyratna, Nishanka
16
results:
Search for persons
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Format
Online (16)
Mediatypes
Articles (Online) (6)
OpenAccess-fulltext (10)
Sorted by: Relevance
Sorted by: Year
?
1
TECPR2‐related hereditary sensory and autonomic neuropathy ..:
Khalaf‐Nazzal, Reham
;
Dweikat, Imad
;
Ubeyratna, Nishanka
...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/..
?
2
SLC4A10 mutation causes a neurological disorder associated ..:
Fasham, James
;
Huebner, Antje K
;
Liebmann, Lutz
...
Brain. 146 (2023) 11 - p. 4547-4561 , 2023
Link:
https://doi.org/10.1093/..
?
3
Biallelic DAW1 variants cause a motile ciliopathy character..:
Leslie, Joseph S.
;
Hjeij, Rim
;
Vivante, Asaf
...
Genetics in Medicine. 24 (2022) 11 - p. 2249-2261 , 2022
Link:
https://doi.org/10.1016/..
?
4
Bi-allelic CAMSAP1 variants cause a clinically recognizable..:
Khalaf-Nazzal, Reham
;
Fasham, James
;
Inskeep, Katherine A.
...
The American Journal of Human Genetics. 109 (2022) 11 - p. 2068-2079 , 2022
Link:
https://doi.org/10.1016/..
?
5
Consolidating biallelic SDHD variants as a cause of mitocho..:
Lin, Siying
;
Fasham, James
;
Al-Hijawi, Fida'
...
European Journal of Human Genetics. 29 (2021) 10 - p. 1570-1576 , 2021
Link:
https://doi.org/10.1038/..
?
6
Final Exon Frameshift Biallelic PTPN23 Variants Are Associa..:
Khalaf-Nazzal, Reham
;
Fasham, James
;
Ubeyratna, Nishanka
...
Brain Sciences. 11 (2021) 5 - p. 614 , 2021
Link:
https://doi.org/10.3390/..
?
7
SLC4A10 mutation causes a neurological disorder associated ..:
Fasham, James
;
Huebner, Antje K
;
Liebmann, Lutz
...
10.1093/brain/awad235. , 2023
Link:
http://hdl.handle.net/10..
?
8
SLC4A10 mutation causes a neurological disorder associated ..:
Fasham, James
;
Huebner, Antje K
;
Liebmann, Lutz
...
https://discovery.ucl.ac.uk/id/eprint/10178829/1/awad235.pdf. , 2023
Link:
https://discovery.ucl.ac..
?
9
Biallelic DAW1 variants cause a motile ciliopathy character..:
Leslie, Joseph S
;
Hjeij, Rim
;
Vivante, Asaf
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584193/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
10
Biallelic DAW1 variants cause a motile ciliopathy character..:
Leslie, Joseph S
;
Hjeij, Rim
;
Vivante, Asaf
...
https://pure.au.dk/portal/en/publications/7b4a9a5f-60ea-4e3a-8fe5-6f943101cb02. , 2022
Link:
https://pure.au.dk/porta..
?
11
Bi-allelic CAMSAP1 variants cause a clinically recognizable..:
Khalaf-Nazzal, Reham
;
Fasham, James
;
Inskeep, Katherine A
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674946/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
12
Final Exon Frameshift Biallelic PTPN23 Variants Are Associa..:
Khalaf-Nazzal, Reham
;
Fasham, James
;
Ubeyratna, Nishanka
...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/34064836/. , 2021
Link:
https://doi.org/10.3390/..
?
13
Consolidating biallelic SDHD variants as a cause of mitocho..:
Lin, Siying
;
Fasham, James
;
Al-Hijawi, Fida'
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484551/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
14
Final Exon Frameshift Biallelic PTPN23 Variants Are Associa..:
Khalaf-Nazzal, Reham
;
Fasham, James
;
Ubeyratna, Nishanka
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151426/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
15
Final Exon Frameshift Biallelic PTPN23 Variants Are Associa..:
Reham Khalaf-Nazzal
;
James Fasham
;
Nishanka Ubeyratna
...
https://www.mdpi.com/2076-3425/11/5/614. , 2021
Link:
https://doi.org/10.3390/..
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