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Alsaman, Abdulaziz
26  Ergebnisse:
Personensuche X
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1

Clinical and Molecular Characteristics of Neuronal Ceroid L..:

Saleh, Mohammed M. ; Hamhom, Abdulrahim M. ; Al-Otaibi, Ali...
Pediatric Neurology.  155 (2024)  - p. 149-155 , 2024
Link: https://doi.org/10.1016/..
 
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2

Parkinsonism‐dystonia‐2: Case‐series study from Saudi Arabi:

Almuqbil, Mohammed A. ; Tabassum, Sadia ; Muthaffar, Osama Y....
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 1063-1066 , 2024
Link: https://doi.org/10.1002/..
 
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3

Loss of function variants in DNAJB4 cause a myopathy with e..:

Weihl, Conrad C. ; Töpf, Ana ; Bengoechea, Rocio...
Acta Neuropathologica.  145 (2022)  1 - p. 127-143 , 2022
Link: https://doi.org/10.1007/..
 
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4

Correction to: Expanding the genetic heterogeneity of intel..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics.  137 (2017)  1 - p. 105-109 , 2017
Link: https://doi.org/10.1007/..
 
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5

Expanding the genetic heterogeneity of intellectual disabil..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics.  136 (2017)  11-12 - p. 1419-1429 , 2017
Link: https://doi.org/10.1007/..
 
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6

Late Diagnosis of SEPN-1 Related Myopathy : Case-Series Rep..:

Albassam, Fahad ; Alsaman, Abdulaziz
Neurology.  86 (2016)  16_supplement - p. , 2016
Link: https://doi.org/10.1212/..
 
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7

COLQ Mutation in Three Siblings of a Saudi Family: Congenit..:

Albassam, Fahad ; Alsaman, Abdulaziz
Neurology.  86 (2016)  16_supplement - p. , 2016
Link: https://doi.org/10.1212/..
 
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8

Clinical, Pathologic, and Mutational Spectrum of Dystroglyc..:

Meilleur, Katherine G. ; Zukosky, Kristen ; Medne, Livija...
Journal of Neuropathology & Experimental Neurology.  73 (2014)  5 - p. 425-441 , 2014
Link: https://doi.org/10.1097/..
 
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9

Novel homozygous DEAF1 variant suspected in causing white m..:

Faqeih, Eissa A. ; Al‐Owain, Mohammed ; Colak, Dilek...
American Journal of Medical Genetics Part A.  164 (2014)  6 - p. 1565-1570 , 2014
Link: https://doi.org/10.1002/..
 
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10

Electrocardiographic changes in cases of duchenne muscular ..:

Khan, Muhammad Ari ; Almashham, Yahya ; Almoukirish, Abdulrehman...
Journal of the Saudi Heart Association.  25 (2013)  2 - p. 154-155 , 2013
Link: https://doi.org/10.1016/..
 
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11

Hepatocerebral form of mitochondrial DNA depletion syndrome..:

AlSaman, Abdulaziz ; Tomoum, Hoda ; Invernizzi, Federica.
Saudi Journal of Gastroenterology.  18 (2012)  4 - p. 285 , 2012
Link: https://doi.org/10.4103/..
 
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12

Infantile Spinal Muscular Atrophy With Respiratory Distress..:

AlSaman, Abdulaziz ; Tomoum, Hoda
Journal of Child Neurology.  25 (2010)  6 - p. 764-769 , 2010
Link: https://doi.org/10.1177/..
 
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13

Patient demographics and characteristics from an ambispecti..:

AlSaman, Abdulaziz S. ; Al Ghamdi, Fouad ; Bamaga, Ahmed K....
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

FARS2 deficiency; new cases, review of clinical, biochemica..:

Almannai, Mohammed ; Wang, Julia ; Dai, Hongzheng...
Molecular Genetics and Metabolism.  125 (2018)  3 - p. 281-291 , 2018
Link: https://doi.org/10.1016/..
 
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15

Type III Spinal Muscular Atrophy Mimicking Muscular Dystrop..:

Alsaman, Abdulaziz S. ; AlShaikh, Nahla M.
Pediatric Neurology.  48 (2013)  5 - p. 363-366 , 2013
Link: https://doi.org/10.1016/..
 
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