E-LIB Suche - Ergebnisse für: Elkhateeb, Nour M.

1

Clinical, biomarker and genetic spectrum of Niemann‐Pick ty..:

Mahmoud, Iman G. ; Elmonem, Mohamed A. ; Elkhateeb, Nour M....
Clinical Genetics. 95 (2019) 4 - p. 537-539 , 2019

Link: https://doi.org/10.1111/..

2

RTN2 deficiency results in an autosomal recessive distal mo..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain. 147 (2024) 7 - p. 2334-2343 , 2024

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

3

The clinical and genetic landscape of developmental and epi..:

Elkhateeb, Nour ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Clinical Genetics. 105 (2024) 5 - p. 510-522 , 2024

Link: https://doi.org/10.1111/..

4

Clinical and molecular spectrum of a large Egyptian cohort ..:

Zaki, Maha S. ; Sharaf‐Eldin, Wessam E. ; Rafat, Karima...
Clinical Genetics. 104 (2023) 2 - p. 238-244 , 2023

Link: https://doi.org/10.1111/..

5

Three siblings with variable degrees of neuromuscular invol..:

Salam, Mai Abd El ; Salama, Khaled ; Selim, Yasmeen M. M....
Annals of Human Genetics. 87 (2023) 4 - p. 166-173 , 2023

Link: https://doi.org/10.1111/..

6

Natural history of epilepsy in argininosuccinic aciduria pr..:

Elkhateeb, Nour ; Olivieri, Giorgia ; Siri, Barbara...
Epilepsia. 64 (2023) 6 - p. 1612-1626 , 2023

Link: https://doi.org/10.1111/..

7

The incidence of movement disorder increases with age and c..:

Gurung, Sonam ; Karamched, Saketh ; Perocheau, Dany...
Journal of Inherited Metabolic Disease. , 2023

Link: https://doi.org/10.1002/..

8

Clinical and neurophysiological characterization of early n..:

Elkhateeb, Nour ; Selim, Rasha ; Soliman, Neveen A....
Pediatric Nephrology. 37 (2021) 7 - p. 1555-1566 , 2021

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

9

Cystic kidneys in fetal Walker–Warburg syndrome withPOMT2mu..:

Nabhan, Marwa M. ; ElKhateeb, Nour ; Braun, Daniela A....
American Journal of Medical Genetics Part A. 173 (2017) 10 - p. 2697-2702 , 2017

Link: https://doi.org/10.1002/..

10

Clinical and molecular spectrum of a large Egyptian cohort ..:

Zaki, Maha S ; Sharaf‐Eldin, Wessam E ; Rafat, Karima...
qt2tn8t7jd. , 2023

Link: https://escholarship.org..

11

The incidence of movement disorder increases with age and c..:

Gurung, Sonam ; Karamched, Saketh ; Perocheau, Dany...
https://discovery.ucl.ac.uk/id/eprint/10183269/2/Duff_The%20incidence%20of%20movement%20disorder%20increases%20with%20age%20and%20contrasts%20with%20subtle%20and%20limited%20neuroimaging%20abnormalities%20in%20argininosuccinic%20aciduria_AOP.pdf. , 2023

Link: https://discovery.ucl.ac..

12

Natural history of epilepsy in argininosuccinic aciduria pr..:

Elkhateeb, Nour ; Olivieri, Giorgia ; Siri, Barbara...
https://discovery.ucl.ac.uk/id/eprint/10168456/1/Natural%20history%20of%20epilepsy%20in%20argininosuccinic%20aciduria.pdf. , 2023

Link: https://discovery.ucl.ac..

13

Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 ..:

Nabhan, Marwa M ; ElKhateeb, Nour ; Braun, Daniela A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205885/. , 2017

Link: http://www.ncbi.nlm.nih...

14

Generation of an induced pluripotent stem cell (iPSC) line ..:

Ababneh, Nidaa A. ; Barham, Raghda ; Al-Kurdi, Ban...
Stem Cell Research. 54 (2021) - p. 102358 , 2021

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

15

PD-PK evaluation of freeze-dried atorvastatin calcium-loade..:

Ahmed, Iman S. ; El-Hosary, Rania ; Shalaby, Samia...
International Journal of Pharmaceutics. 504 (2016) 1-2 - p. 70-79 , 2016

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