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X
Muthaffar, Osama Yousef
60  Ergebnisse:
Personensuche X
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1

Unveiling genetics of non-syndromic albinism using whole ex..:

Zaman, Qaiser ; Khan, Jamshid ; Ahmad, Mashal...
Gene.  894 (2024)  - p. 147986 , 2024
Link: https://doi.org/10.1016/..
 
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2

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead..:

Zaman, Qaiser ; Iftikhar, Aiman ; Rehman, Gauhar...
The Journal of Gene Medicine.  25 (2023)  10 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

A Novel Homozygous Nonsense Variant in the DYM Underlies Dy..:

Bakar, Abu ; Shams, Sulaiman ; Bibi, Nousheen...
Genes.  14 (2023)  2 - p. 510 , 2023
Link: https://doi.org/10.3390/..
 
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4

Whole exome sequencing identified five novel variants in CN..:

Abdulkareem, Angham Abdulrhman ; Zaman, Qaiser ; Khan, Hamza...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–..:

Zaman, Qaiser ; Khan, Muhammad Abbas ; Sahar, Kalsoom...
Genes.  14 (2023)  2 - p. 328 , 2023
Link: https://doi.org/10.3390/..
 
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6

A Novel Homozygous Abnormal Splice Variant in the Myoferlin..:

Abdulkareem, Angham Abdulrahman ; Shirah, Bader H. ; Muthaffar, Osama Yousef..
Journal of Disability Research.  2 (2023)  4 - p. , 2023
Link: https://doi.org/10.57197..
 
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7

Whole Exome Sequencing Reveals Two Novel Homozygous Variant..:

Abdulkareem, Angham Abdulrahman ; Shirah, Bader H. ; Muthaffar, Osama Yousef.
Journal of Disability Research.  2 (2023)  3 - p. , 2023
Link: https://doi.org/10.57197..
 
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8

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Ge..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrhman ; Rasool, Mahmood...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Whole Exome Sequencing Identifies Three Novel Mutations in ..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrahman ; Muthaffar, Osama Yousef...
Frontiers in Pediatrics.  8 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

A novel homozygous frameshift variant in the MCPH1 gene cau..:

Naseer, Muhammad Imran ; Rasool, Mahmood ; Muthaffar, Osama Yousef...
Genes & Genomics.  39 (2017)  12 - p. 1317-1323 , 2017
Link: https://doi.org/10.1007/..
 
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11

Pretreatment with troxerutin protects/improves neurological..:

Khan Malik, Ashfaq Ahmed ; Ahmad, Waqas ; Younas, Farhan...
Heliyon.  9 (2023)  7 - p. e18033 , 2023
Link: https://doi.org/10.1016/..
 
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12

Exome sequencing reveled a compound heterozygous mutations ..:

Imran Naseer, Muhammad ; Abdulrahman Abdulkareem, Angham ; Yousef Muthaffar, Osama.
Saudi Journal of Biological Sciences.  28 (2021)  5 - p. 2824-2829 , 2021
Link: https://doi.org/10.1016/..
 
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13

Whole exome sequencing identified five novel variants in CN..:

Abdulkareem, Angham Abdulrhman ; Zaman, Qaiser ; Khan, Hamza...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285458/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

Novel variants in MPV17, PRX, GJB1, and SACS Cause Charcot–..:

Zaman, Qaiser ; Khan, Muhammad Abbas ; Sahar, Kalsoom...
http://dx.doi.org/10.18725/OPARU-50867.  , 2023
Link: https://doi.org/10.18725..
 
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15

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Ge..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrhman ; Rasool, Mahmood...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9257097/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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