E-LIB Suche - Ergebnisse für: Basit, Sulman

1

Exome Sequencing to Identify Novel Variants Associated with..:

Almatrafi, Ahmed M. ; Hibshi, Ali M. ; Basit, Sulman
Biomedicines. 12 (2024) 4 - p. 785 , 2024

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

2

Loss-of-function variant in spermidine/spermine N1-acetyl t..:

Alayoubi, Abdulfatah M. ; Iqbal, Muhammad ; Aman, Hassan...
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

3

Identification of Novel and Recurrent Variants in BTD, GBE1..:

Latif, Muhammad ; Hashmi, Jamil Amjad ; Alayoubi, Abdulfatah M...
Journal of Clinical Medicine. 13 (2024) 5 - p. 1193 , 2024

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

4

Association of Homozygous PROP1 Mutation in a Saudi Family ..:

Almatrafi, Ahmed ; Hibshi, Ali ; Basit, Sulman
Medicina. 59 (2023) 3 - p. 474 , 2023

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

5

A TMC8 splice variant causes epidermodysplasia verruciformi..:

Xiong, Xing ; Uddin, Syed Ashraf ; Munir, Sobia...
Clinical and Experimental Dermatology. 48 (2023) 4 - p. 434-437 , 2023

Link: https://doi.org/10.1093/..

6

Homozygous Duplication in the CHRNE in a Family with Congen..:

Almatrafi, Ahmad M. ; Alluqmani, Majed M. ; Basit, Sulman
Biomedicines. 11 (2023) 11 - p. 2983 , 2023

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

7

Polymorphisms in the Drug Transporter Gene ABCB1 Are Associ..:

Magadmi, Rania ; Alyoubi, Reem ; Moshrif, Tahani...
Biomedicines. 11 (2023) 9 - p. 2505 , 2023

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

8

Molecular Dynamic Simulation Analysis of a Novel Missense V..:

Ullah, Asmat ; Shah, Abid Ali ; Syed, Fibhaa...
Medicina. 59 (2023) 2 - p. 379 , 2023

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

9

Identification of novel homozygous variants in FOXE3 and AP..:

Akbar, Warda ; Ullah, Asmat ; Haider, Nighat...
The Journal of Gene Medicine. 26 (2023) 1 - p. , 2023

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

10

Ultrastructure abnormalities of collagen and elastin in Ara..:

Faiyaz‐Ul‐Haque, Muhammad ; Mubarak, Mohammed ; AbdulWahab, Atqah...
Journal of Cutaneous Pathology. 49 (2022) 7 - p. 618-622 , 2022

Link: https://doi.org/10.1111/..

11

Phenotype Expansion for Atypical Gaucher Disease Due to Hom..:

Liaqat, Khurram ; Hussain, Shabir ; Acharya, Anushree...
Genes. 13 (2022) 4 - p. 662 , 2022

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

12

A novel nonsense variant in EXOC8 underlies a neurodevelopm..:

Ullah, Asmat ; Krishin, Jai ; Haider, Nighat...
neurogenetics. 23 (2022) 3 - p. 203-212 , 2022

Link: https://doi.org/10.1007/..

13

The Expansion of the Spectrum in Stuttering Disorders to a ..:

Rehman, Adil U ; Hamid, Malaika ; Khan, Sher Alam...
Genes. 13 (2022) 12 - p. 2299 , 2022

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

14

Exome Sequencing Revealed a Novel Splice Site Variant in th..:

Simaab, Anam ; Krishin, Jai ; Alaradi, Sultan Rashid...
Medicina. 58 (2022) 12 - p. 1784 , 2022

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

15

Exome sequencing reveals the first intragenic deletion in A..:

Raza, Rubab ; Ullah, Asmat ; Haider, Nighat...
Clinical and Experimental Dermatology. 47 (2022) 6 - p. 1137-1143 , 2022

Link: https://doi.org/10.1111/..