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Khalaf‐Nazzal, Reham
34
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Online (34)
Mediatypes
Articles (Online) (13)
OpenAccess-fulltext (21)
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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
Prevalent MLC1 mutation causing autosomal recessive megalen..:
Khalaf-Nazzal, Reham
;
Dweikat, Imad
;
Maree, Mosab
...
Brain and Development. 44 (2022) 7 - p. 454-461 , 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
Clinical heterogeneity of hyperornithinemia-hyperammonemia-..:
Dweikat, Imad
;
Khalaf-Nazzal, Reham
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
6
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/..
?
7
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/..
?
8
Structural Basis of the Oncogenic Interaction of Phosphatas..:
Giménez-Mascarell, Paula
;
Oyenarte, Iker
;
Hardy, Serge
...
Journal of Biological Chemistry. 292 (2017) 3 - p. 786-801 , 2017
Link:
https://doi.org/10.1074/..
?
9
Early born neurons are abnormally positioned in the doublec..:
Khalaf-Nazzal, Reham
;
Stouffer, Melissa A.
;
Olaso, Robert
...
Human Molecular Genetics. , 2016
Link:
https://doi.org/10.1093/..
?
10
Whole exome sequencing reveals complex inheritance patterns..:
Reham, Khalaf-Nazzal
;
Imad, Dweikat
;
Arwa, Maqboul
Frontiers in Neuroscience. 10 (2016) - p. , 2016
Link:
https://doi.org/10.3389/..
?
11
Long-term modifications of epileptogenesis and hippocampal ..:
Hamelin, Sophie
;
Pouyatos, Benoit
;
Khalaf-Nazzal, Reham
...
Neurobiology of Disease. 69 (2014) - p. 156-168 , 2014
Link:
https://doi.org/10.1016/..
?
12
Organelle and Cellular Abnormalities Associated with Hippoc..:
Khalaf-Nazzal, Reham
;
Bruel-Jungerman, Elodie
;
Rio, Jean-Paul
...
PLoS ONE. 8 (2013) 9 - p. e72622 , 2013
Link:
https://doi.org/10.1371/..
?
13
New insights into genotype–phenotype correlations for the d..:
Bahi-Buisson, Nadia
;
Souville, Isabelle
;
Fourniol, Franck J.
...
Brain. 136 (2013) 1 - p. 223-244 , 2013
Link:
https://doi.org/10.1093/..
?
14
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..
?
15
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..
1-15
