E-LIB Suche - Ergebnisse für: Girgis, Marian Y.

1

Cerebral Folate Transport Deficiency in 2 Cases with Intrac..:

Girgis, Marian Y ; Mahfouz, Eman ; Abdellatif, Alshaimaa..
Journal of Epilepsy Research. 14 (2024) 1 - p. 29-36 , 2024

2

Neurological Sequelae Following Pediatric Cardiac Intervent..:

Agha, Hala ; Hussien, Mai Mahmoud ; Girgis, Marian Y..
Open Access Macedonian Journal of Medical Sciences. 9 (2021) B - p. 137-143 , 2021

Link: https://doi.org/10.3889/..

3

Initial levetiracetam versus valproate monotherapy in antis..:

Abdelmesih, Sherry Kodsy ; Elkhateeb, Nour ; Zakaria, Mostafa.
Seizure. 91 (2021) - p. 263-270 , 2021

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

4

Expanding the mutational landscape and clinical phenotype o..:

Medico Salsench, Eva ; Maroofian, Reza ; Deng, Ruizhi...
Brain. 144 (2021) 10 - p. e85-e85 , 2021

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

5

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/..

6

Molybdenum cofactor and isolated sulphite oxidase deficienc..:

Girgis, Marian Y. ; Zaki, Maha S. ; Selim, Laila..
European Journal of Paediatric Neurology. 21 (2017) - p. e127 , 2017

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

7

Lysosomal Storage Disorders in Egyptian Children:

Elmonem, Mohamed A. ; Mahmoud, Iman G. ; Mehaney, Dina A....
The Indian Journal of Pediatrics. 83 (2016) 8 - p. 805-813 , 2016

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

8

Skeletal and cardiac muscle involvement in children with gl..:

Mogahed, Engy A. ; Girgis, Marian Y. ; Sobhy, Rodina...
European Journal of Pediatrics. 174 (2015) 11 - p. 1545-1548 , 2015

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

9

Assessment of respiratory involvement in children with muco..:

El Falaki, Mona M. ; Girgis, Marian Y. ; Ali, Aliaa A...
Egyptian Journal of Medical Human Genetics. 15 (2014) 1 - p. 79-85 , 2014

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

10

Selective screening for inborn errors of metabolism by tand..:

Selim, Laila A. ; Hassan, Sawsan Abdel-Hady ; Salem, Fadia...
Clinical Biochemistry. 47 (2014) 9 - p. 823-828 , 2014

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

11

Expanding the mutational landscape and clinical phenotype o..:

Medico Salsench, Eva ; Maroofian, Reza ; Deng, Ruizhi...
Medico Salsench , E , Maroofian , R , Deng , R , Lanko , K , Nikoncuk , A , Pérez , B , Sánchez-Lijarcio , O , Ibáñez-Mico , S , Wojcik , A , Vargas , M , Abbas Al-Sannaa , N , Girgis , M Y , Silveira , T R D , Bauer , P , Schroeder , A , Fong , C T , Begtrup , A , Babaei , M , Toosi , M B , Ashrafzadeh , F , Imannezhad , S , Doosti , M , Ahangari , N , Najarzadeh Torbati , P , Ghayoor Karimiani , E , Murphy , D , Cali , E , Kaya , I H , Almuhaizea , M , Colak , D , Cardona-Londoño , K J , Arold , S T , Houlden , H , Bertoli-Avella , A , Kaya , N & Barakat , T S 2021 , ' Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder ' , Brain , vol. 144 , no. 10 , e86 . https://doi.org/10.1093/brain/awab297. , 2021

Link: https://pure.eur.nl/en/p..

12

Expanding the mutational landscape and clinical phenotype o..:

Medico Salsench, Eva ; Maroofian, Reza ; Deng, Ruizhi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634087/. , 2021

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

13

Expanding the mutational landscape and clinical phenotype o..:

Salsench, Eva Medico ; Maroofian, Reza ; Deng, Ruizhi...
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awab297/6346981. , 2021

Link: http://hdl.handle.net/10..

14

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/..

15

Phenotypic and mutational spectrum of thirty-five patients ..:

Abdel-Hamid, Mohamed S. ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Journal of Human Genetics. 64 (2019) 9 - p. 859-865 , 2019

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