E-LIB Suche - Ergebnisse für: Asif, Maria

1

Valproic Acid-Induced Thrombocytopenia in Treatment-Resista..:

Schuler, Matthew ; Shammout, Ali ; Asif, Maria.
Cureus. , 2024

Link: https://doi.org/10.7759/..

2

Investigating the effects of a single ASPM variant (c.8508_..:

Aslam, Komal ; Saeed, Aysha ; Jamil, Iffat...
Molecular Biology Reports. 51 (2024) 1 - p. , 2024

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

3

Biallelic loss-of-function variants of ZFTRAF1 cause neurod..:

Asif, Maria ; Khayyat, Arwa Ishaq A. ; Alawbathani, Salem...
Genetics in Medicine. 26 (2024) 7 - p. 101143 , 2024

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

4

Congenital Microcephaly: A Debate on Diagnostic Challenges ..:

Asif, Maria ; Abdullah, Uzma ; Nürnberg, Peter..
Cells. 12 (2023) 4 - p. 642 , 2023

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

5

De novo variants of CSNK2B cause a new intellectual disabil..:

Asif, Maria ; Kaygusuz, Emrah ; Shinawi, Marwan...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100111 , 2022

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

6

Whole-Exome Sequencing of Pakistani Consanguineous Families..:

Asif, Maria ; Anayat, Maryam ; Tariq, Faiza...
Genes. 14 (2022) 1 - p. 48 , 2022

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

7

Monoallelic and biallelic variants in LEF1 are associated w..:

Dufour, William ; Alawbathani, Salem ; Jourdain, Anne-Sophie...
Genetics in Medicine. 24 (2022) 8 - p. 1708-1721 , 2022

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

8

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, R..:

Makhdoom, Ehtisham Ul Haq ; Waseem, Syeda Seema ; Iqbal, Maria...
Genes. 12 (2021) 5 - p. 731 , 2021

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

9

A 24‐generation‐old founder mutation impairs splicing ofRBB..:

Kaygusuz, Emrah ; Khayyat, Arwa Ishaq A. ; Abdullah, Uzma...
Clinical Genetics. 100 (2021) 4 - p. 486-488 , 2021

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

10

A novel missense variant of SCN4A co‐segregates with congen..:

Asif, Maria ; Mocanu, Ionut Dragos ; Abdullah, Uzma...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1251-1258 , 2021

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

11

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Gia..:

Young, Natalie ; Asif, Maria ; Jackson, Matthew...
Genes. 12 (2021) 9 - p. 1294 , 2021

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

12

Rare Pathogenic Variants in Genes Implicated in Glutamaterg..:

Fatima, Ambrin ; Abdullah, Uzma ; Farooq, Muhammad...
Genes. 12 (2021) 12 - p. 1899 , 2021

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

13

Delineating genetic underpinnings and disease pathogenesis ..:

Asif, Maria , 2020

Link: https://nbn-resolving.de..

14

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, ..:

Rasool, Sajida ; Baig, Jamshaid Mahmood ; Moawia, Abubakar...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

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

15

Nesprin-1 impact on tumorigenic cell phenotypes:

Sur-Erdem, Ilknur ; Hussain, Muhammed Sajid ; Asif, Maria...
Molecular Biology Reports. 47 (2019) 2 - p. 921-934 , 2019

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