E-LIB Suche - Ergebnisse für: Abdulkareem, Angham Abdulrhman

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/..

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/..

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/..

4

Phenotypic Classification of Eye Colour and Developmental V..:

Rahat, Murad Ali ; Akbar, Fazal ; Rasool, Akhtar...
Biomedicines. 11 (2023) 4 - p. 1228 , 2023

Link: https://doi.org/10.3390/..

5

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/..

6

Combinatorial Therapeutic Potential of Stem Cells and Benzi..:

Iqbal, Maryam ; Shams, Sulaiman ; Rafiq, Huma...
Pharmaceuticals. 16 (2023) 2 - p. 306 , 2023

Link: https://doi.org/10.3390/..

7

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/..

8

A novel homozygous splice donor variant in the LRPPRC gene ..:

Muthaffar, Osama Y. ; Abdulkareem, Angham Abdulrhman ; Ashi, Abrar.
Frontiers in Pediatrics. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

9

Whole Exome Sequencing Reveals a Novel Homozygous Variant i..:

Abdulkareem, Angham Abdulrhman ; Shirah, Bader H. ; Naseer, Muhammad Imran
Genes. 14 (2023) 2 - p. 354 , 2023

Link: https://doi.org/10.3390/..

10

Clinical whole exome sequencing revealed de novo heterozygo..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrhman ; Rasool, Mahmood...
Saudi Journal of Biological Sciences. 29 (2022) 7 - p. 103309 , 2022

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

11

Autosomal Recessive Spastic Paraplegia Type 78 Associated w..:

Algahtani, Hussein ; Shirah, Bader ; Alshammari, Salem...
Movement Disorders Clinical Practice. 9 (2022) 7 - p. 997-1002 , 2022

Link: https://doi.org/10.1002/..

12

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/..

13

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..

14

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...

15

Combinatorial Therapeutic Potential of Stem Cells and Benzi..:

Iqbal, Maryam ; Shams, Sulaiman ; Rafiq, Huma...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9965641/. , 2023

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