E-LIB Suche - Ergebnisse für: Shaheen, Ranad

1

Hypomorphic GINS3 variants alter DNA replication and cause ..:

McQuaid, Mary E. ; Ahmed, Kashif ; Tran, Stephanie...
JCI Insight. 7 (2022) 10 - p. , 2022

Link: https://doi.org/10.1172/..

2

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine. 24 (2022) 4 - p. 966 , 2022

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

3

Correction to: Transcriptome of CD8+ tumor-infiltrating T c..:

Saleh, Reem ; Nair, Varun Sasidharan ; Murshed, Khaled...
Cancer Immunology, Immunotherapy. 70 (2021) 9 - p. 2639-2640 , 2021

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

4

Mutations in phospholipase C eta-1 (PLCH1) are associated w..:

Drissi, Ichrak ; Fletcher, Emily ; Shaheen, Ranad...
Journal of Medical Genetics. 59 (2021) 4 - p. 358-365 , 2021

Link: https://doi.org/10.1136/..

5

Complement C5a and Clinical Markers as Predictors of COVID-..:

Cyprian, Farhan S. ; Suleman, Muhammad ; Abdelhafez, Ibrahim...
Frontiers in Immunology. 12 (2021) - p. , 2021

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

6

Transcriptome of CD8+ tumor-infiltrating T cells: a link be..:

Saleh, Reem ; Sasidharan Nair, Varun ; Murshed, Khaled...
Cancer Immunology, Immunotherapy. 70 (2021) 9 - p. 2625-2638 , 2021

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

7

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (..:

Shaheen, Ranad ; Alsahli, Saud ; Ewida, Nour...
Hepatology. 71 (2020) 6 - p. 2067-2079 , 2020

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

8

YIF1B mutations cause a post-natal neurodevelopmental syndr..:

Diaz, Jorge ; Gérard, Xavier ; Emerit, Michel-Boris...
Brain. 143 (2020) 10 - p. 2911-2928 , 2020

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

9

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine. 22 (2020) 6 - p. 1051-1060 , 2020

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

10

Genomic and phenotypic delineation of congenital microcepha..:

Shaheen, Ranad ; Maddirevula, Sateesh ; Ewida, Nour...
Genetics in Medicine. 21 (2019) 3 - p. 545-552 , 2019

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

11

Biallelic novel missense HHAT variant causes syndromic micr..:

Abdel‐Salam, Ghada M. H. ; Mazen, Inas ; Eid, Maha...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 1053-1057 , 2019

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

12

PUS7 mutations impair pseudouridylation in humans and cause..:

Shaheen, Ranad ; Tasak, Monika ; Maddirevula, Sateesh...
Human Genetics. 138 (2019) 3 - p. 231-239 , 2019

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

13

Biallelic variants inCTU2cause DREAM‐PL syndrome and impair..:

Shaheen, Ranad ; Mark, Paul ; Prevost, Christopher T....
Human Mutation. 40 (2019) 11 - p. 2108-2120 , 2019

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

14

Correction: Corrigendum: Autozygosity reveals recessive mut..:

Monies, Dorota ; Maddirevula, Sateesh ; Kurdi, Wesam...
Genetics in Medicine. 20 (2018) 3 - p. 380 , 2018

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

15

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary..:

Alkanderi, Sumaya ; Molinari, Elisa ; Shaheen, Ranad...
The American Journal of Human Genetics. 103 (2018) 4 - p. 612-620 , 2018

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