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Shaul Lotan, Nava
22
results:
Search for persons
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Format
Online (22)
Mediatypes
Articles (Online) (13)
OpenAccess-fulltext (9)
Sorted by: Relevance
Sorted by: Year
?
1
Hereditary orotic aciduria identified by newborn screening:
Staretz-Chacham, Orna
;
Damseh, Nadirah S.
;
Daas, Suha
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
2
A common benign intronic deletion masking a pathogenic deep..:
Kurolap, Alina
;
Barel, Dalit
;
Shaul Lotan, Nava
...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107702 , 2023
Link:
https://doi.org/10.1016/..
?
3
Addition of galactose‐1‐phosphate measurement enhances newb..:
Daas, Suha
;
Abu Salah, Nasser
;
Anikster, Yair
...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 232-242 , 2022
Link:
https://doi.org/10.1002/..
?
4
Biallelic Loss of Function Variants in SENP7 Cause Immunode..:
Kobayashi, Erica Sanford
;
Lotan, Nava Shaul
;
Schejter, Yael Dinur
...
The Journal of Pediatrics. , 2024
Link:
https://doi.org/10.1016/..
?
5
Novel homozygous variants in PRORP expand the genotypic spe..:
Smith, Thomas B.
;
Rea, Alessandro
;
Thomas, Huw B.
...
European Journal of Human Genetics. 31 (2023) 10 - p. 1190-1194 , 2023
Link:
https://doi.org/10.1038/..
?
6
A neurodevelopmental disorder associated with a loss-of-fun..:
Aguila, Adriana
;
Salah, Somaya
;
Kulasekaran, Gopinath
...
Journal of Biological Chemistry. 300 (2024) 4 - p. 107124 , 2024
Link:
https://doi.org/10.1016/..
?
7
Hereditary orotic aciduria identified by newborn screening:
Staretz-Chacham, Orna
;
Damseh, Nadirah S
;
Daas, Suha
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043439/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
8
Homozygous variant in MADD, encoding a Rab guanine nucleoti..:
Abu-Libdeh, Bassam
;
Mor-Shaked, Hagar
;
Atawna, Amir A.
...
European Journal of Human Genetics. 29 (2021) 6 - p. 977-987 , 2021
Link:
https://doi.org/10.1038/..
?
9
DataSheet1_Hereditary orotic aciduria identified by newborn..:
Orna Staretz-Chacham
;
Nadirah S. Damseh
;
Suha Daas
...
doi:10.3389/fgene.2023.1135267.s001. , 2023
Link:
https://doi.org/10.3389/..
?
10
Novel homozygous variants in PRORP expand the genotypic spe..:
Smith, Thomas B
;
Rea, Alessandro
;
Thomas, Huw B
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545766/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
11
Novel homozygous variants in PRORP expand the genotypic spe..:
Smith, Thomas B
;
Rea, Alessandro
;
Thomas, Huw B
...
https://discovery.ucl.ac.uk/id/eprint/10175253/1/s41431-023-01437-2.pdf. , 2023
Link:
https://discovery.ucl.ac..
?
12
Hereditary orotic aciduria identified by newborn screening:
Orna Staretz-Chacham
;
Nadirah S. Damseh
;
Suha Daas
...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1135267/full. , 2023
Link:
https://doi.org/10.3389/..
?
13
Homozygous variant in MADD, encoding a Rab guanine nucleoti..:
Abu-Libdeh, Bassam
;
Mor-Shaked, Hagar
;
Atawna, Amir A
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8187650/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
14
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Re..:
Turnpenny, Peter D
;
Wright, Michael J
;
Sloman, Melissa
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218713/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
15
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Re..:
Turnpenny, Peter D
;
Wright, Michael J
;
Sloman, Melissa
...
https://research.rug.nl/en/publications/5909623f-0e98-4d0b-a0da-e2224acd89a4. , 2018
Link:
https://hdl.handle.net/1..
1-15
