E-LIB Suche - Ergebnisse für: Alharby, Essa

1

Biallelic loss of function variant in ZNF808 is associated ..:

Alqahtani, Mohammad Awwad ; Al‐Qahtani, Saleh M. ; Al‐Falki, Yahya H....
Clinical Genetics. 104 (2023) 4 - p. 497-498 , 2023

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

2

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:

Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A....
Genetics in Medicine. 25 (2023) 2 - p. 100323 , 2023

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

3

Functional analysis of germline VANGL2 variants using rescu..:

Derrick, Christopher J ; Szenker-Ravi, Emmanuelle ; Santos-Ledo, Adrian...
Human Molecular Genetics. 33 (2023) 2 - p. 150-169 , 2023

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

4

Biallelic loss of function variant in the unfolded protein ..:

Al‐Fadhli, Fatima M. ; Afqi, Manal ; Sairafi, Mona Hamza...
Clinical Genetics. 99 (2021) 5 - p. 694-703 , 2021

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

5

A novel frameshift mutation in the ITGB3 gene leading to Gl..:

Alharbi, Asma ; Hashmi, Jamil A. ; Alharby, Essa...
Hematology/Oncology and Stem Cell Therapy. , 2021

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

6

Clinical characterization and further confirmation of the a..:

Bilal Shamsi, Monis ; Saleh, Mohamed ; Almuntashri, Makki...
Journal of Human Genetics. 66 (2021) 7 - p. 689-695 , 2021

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

7

Centromere protein I (CENPI) is a candidate gene for X-link..:

Basit, Sulman ; Al-Edressi, Howaida Mohammed ; Sairafi, Mona Hamza...
Journal of Nephrology. 33 (2020) 4 - p. 763-769 , 2020

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

8

Clinical, molecular, and biochemical delineation of asparag..:

Alharby, Essa ; Faqeih, Eissa A. ; Saleh, Mohammed...
Genetics in Medicine. 22 (2020) 12 - p. 2071-2080 , 2020

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

9

New paradigms of USP53 disease: normal GGT cholestasis, BRI..:

Alhebbi, Hamoud ; Peer-Zada, Abdul Ali ; Al‐Hussaini, Abdulrahman A....
Journal of Human Genetics. 66 (2020) 2 - p. 151-159 , 2020

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

10

Whole genome SNP genotyping in a family segregating develop..:

Basit, Sulman ; Alharby, Essa ; Albalawi, Alia M..
Congenital Anomalies. 58 (2017) 2 - p. 56-61 , 2017

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

11

Exome sequencing identified rare variants in genes HSPG2 an..:

Basit, Sulman ; Albalawi, Alia M. ; Alharby, Essa.
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

12

CIT, a gene involved in neurogenic cytokinesis, is mutated ..:

Basit, Sulman ; Al-Harbi, Khalid M. ; Alhijji, Sabri A. M....
Human Genetics. 135 (2016) 10 - p. 1199-1207 , 2016

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

13

Functional analysis of germline VANGL2 variants using rescu..:

Derrick, Christopher J ; Szenker-Ravi, Emmanuelle ; Santos-Ledo, Adrian...
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddad171/7304122. , 2023

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

14

A Biallelic Variant in FRA10AC1 Is Associated With Neurodev..:

Alsaleh, Norah ; Alhashem, Amal ; Tabarki, Brahim...
http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000200010. , 2022

Link: http://hdl.handle.net/10..

15

A Biallelic Variant in FRA10AC1 Is Associated With Neurodev..:

Alsaleh, Norah ; Alhashem, Amal ; Tabarki, Brahim...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269531/. , 2022

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