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Abdulkareem, Angham Abdulrahman
83  Ergebnisse:
Personensuche X
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1

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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2

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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3

Next-Generation Sequencing Reveals Novel Homozygous Missens..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrahman ; Pushparaj, Peter Natesan..
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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4

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T..:

Naseer, Muhammad Imran ; Pushparaj, Peter Natesan ; Abdulkareem, Angham Abdulrahman.
Frontiers in Pediatrics.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Autosomal recessive cerebellar ataxia with spasticity due t..:

Algahtani, Hussein ; Shirah, Bader ; Ullah, Ikram...
Genes & Diseases.  8 (2021)  1 - p. 110-114 , 2021
Link: https://doi.org/10.1016/..
 
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6

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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7

Chronic progressive external ophthalmoplegia in a Saudi pat..:

Algahtani, Hussein ; Shirah, Bader ; Alsaggaf, Khalid...
Journal of Genetic Medicine.  18 (2021)  2 - p. 121-126 , 2021
Link: https://doi.org/10.5734/..
 
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8

Identification of Novel Gene Signatures using Next-Generati..:

Pushparaj, Peter Natesan ; Abdulkareem, Angham Abdulrahman ; Naseer, Muhammad Imran
Frontiers in Pharmacology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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9

Novel Missense Variant in Heterozygous State in the BRPF1 G..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrahman ; Guzmán-Vega, Francisco J....
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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10

A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient ..:

Algahtani, Hussein ; Shirah, Bader ; Albarakaty, Ahmad...
Journal of Epilepsy Research.  10 (2020)  1 - p. 40-43 , 2020
Link: https://doi.org/10.14581..
 
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11

A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene..:

Algahtani, Hussein ; Shirah, Bader ; Alshareef, Alhusain...
Intractable & Rare Diseases Research.  9 (2020)  3 - p. 151-155 , 2020
Link: https://doi.org/10.5582/..
 
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12

Next generation sequencing reveals novel homozygous framesh..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrahman ; Jan, Mohammed M....
Saudi Journal of Biological Sciences.  27 (2020)  11 - p. 3125-3131 , 2020
Link: https://doi.org/10.1016/..
 
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13

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saud..:

Algahtani, Hussein ; Shirah, Bader ; Alharbi, Suzan Y....
Journal of Stroke and Cerebrovascular Diseases.  29 (2020)  7 - p. 104832 , 2020
Link: https://doi.org/10.1016/..
 
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14

Whole exome sequencing reveals a homozygous nonsense mutati..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrahman ; Jan, Mohammed Mohammed..
Pakistan Journal of Medical Sciences.  36 (2020)  6 - p. , 2020
Link: https://doi.org/10.12669..
 
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15

Exome Analysis Identified Novel Homozygous Splice Site Dono..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrahman ; Pushparaj, Peter Natesan..
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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