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AlShahwan, Saad
33  results:
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1

Bi-allelic variants in HCRT cause autosomal recessive narco..:

Hakami, Wejdan ; Thabet, Farah ; Alhashem, Amal...
neurogenetics.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuro..:

BoAli, Ahmed ; Tlili-Graiess, Kalthoum ; AlHashem, Amal...
Pediatric Neurology.  91 (2019)  - p. 57-61 , 2019
Link: https://doi.org/10.1016/..
 
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3

A multicenter clinical exome study in unselected cohorts fr..:

Alfares, Ahmed ; Alfadhel, Majid ; Wani, Tariq...
Molecular Genetics and Metabolism.  121 (2017)  2 - p. 91-95 , 2017
Link: https://doi.org/10.1016/..
 
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4

Sepiapterin reductase deficiency: Report of 5 new cases:

AlSubhi, Sarah ; AlShahwan, Saad ; AlMuhaizae, Mohamed..
European Journal of Paediatric Neurology.  21 (2017)  3 - p. 583-586 , 2017
Link: https://doi.org/10.1016/..
 
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5

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, ..:

Eskandrani, Alaa ; AlHashem, Amal ; Ali, El-Sayed...
Pediatric Neurology.  71 (2017)  - p. 24-28 , 2017
Link: https://doi.org/10.1016/..
 
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6

Congenital disorders of glycosylation: The Saudi experience:

Alsubhi, Sarah ; Alhashem, Amal ; Faqeih, Eissa...
American Journal of Medical Genetics Part A.  173 (2017)  10 - p. 2614-2621 , 2017
Link: https://doi.org/10.1002/..
 
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7

Characterizing the morbid genome of ciliopathies:

Ciliopathy WorkingGroup ; Shaheen, Ranad ; Szymanska, Katarzyna...
Genome Biology.  17 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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8

Treatment of biotin-responsive basal ganglia disease: Open ..:

Tabarki, Brahim ; Alfadhel, Majid ; AlShahwan, Saad...
European Journal of Paediatric Neurology.  19 (2015)  5 - p. 547-552 , 2015
Link: https://doi.org/10.1016/..
 
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9

Severe CNS involvement in WWOX mutations: Description of fi..:

Tabarki, Brahim ; AlHashem, Amal ; AlShahwan, Saad...
American Journal of Medical Genetics Part A.  167 (2015)  12 - p. 3209-3213 , 2015
Link: https://doi.org/10.1002/..
 
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10

Accelerating Novel Candidate Gene Discovery in Neurogenetic..:

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E....
Cell Reports.  10 (2015)  2 - p. 148-161 , 2015
Link: https://doi.org/10.1016/..
 
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11

Severe Infantile Encephalomyopathy Caused by a Mutation in ..:

Massa, Valeria ; Fernandez-Vizarra, Erika ; Alshahwan, Saad...
The American Journal of Human Genetics.  82 (2008)  6 - p. 1281-1289 , 2008
Link: https://doi.org/10.1016/..
 
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12

Cephalosporin-induced nonconvulsive status epilepticus in a..:

Chedrawi, Aziza K ; Gharaybeh, Salam I ; Al-Ghwery, Saed A..
Pediatric Neurology.  30 (2004)  2 - p. 135-139 , 2004
Link: https://doi.org/10.1016/..
 
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13

Acute psychosis in children: do not miss immune-mediated ca..:

AlHakeem, Afnan S. ; Mekki, Mohamed S. ; AlShahwan, Saad M..
Neurosciences.  21 (2016)  3 - p. 252-255 , 2016
Link: https://doi.org/10.17712..
 
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14

Genomic and phenotypic delineation of congenital microcepha..:

Shaheen, Ranad ; Maddirevula, Sateesh ; Ewida, Nour...
Genetics in Medicine.  21 (2019)  3 - p. 545-552 , 2019
Link: https://doi.org/10.1038/..
 
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15

Bilateral External Ophthalmoplegia in Biotin-Responsive Bas..:

Tabarki, Brahim ; Al-Sheikh, Fahad ; Al-Shahwan, Saad.
The Journal of Pediatrics.  162 (2013)  6 - p. 1291-1292 , 2013
Link: https://doi.org/10.1016/..
 
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