E-LIB Suche - Ergebnisse für: AlZahrani, Fatema

1

Diagnostic implications of pitfalls in causal variant ident..:

AlAbdi, Lama ; Maddirevula, Sateesh ; Shamseldin, Hanan E....
Nature Communications. 14 (2023) 1 - p. , 2023

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

2

Genomic analysis of multiplex consanguineous families revea..:

Shafique, Anum ; Sultan, Tipu ; Alzahrani, Fatema...
Gene. 879 (2023) - p. 147599 , 2023

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

3

A null founder variant in NPNT, encoding nephronectin, caus..:

Al‐Hamed, Mohamed H. ; Altuwaijri, Norah ; Alsahan, Nada...
Clinical Genetics. 102 (2022) 1 - p. 61-65 , 2022

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

4

Biallelic variants in KARS1 are associated with neurodevelo..:

Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G....
Genetics in Medicine. 23 (2021) 10 - p. 1933-1943 , 2021

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

5

Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a ..:

Alowaysi, Maryam ; Astro, Veronica ; Fiacco, Elisabetta...
Stem Cell Research. 50 (2021) - p. 102148 , 2021

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

6

Lethal variants in humans: lessons learned from a large mol..:

Shamseldin, Hanan E. ; AlAbdi, Lama ; Maddirevula, Sateesh...
Genome Medicine. 13 (2021) 1 - p. , 2021

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

7

Further delineation of SMG9‐related heart and brain malform..:

Altuwaijri, Norah ; Abdelbaky, Mona ; Alhashem, Amal...
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1624-1630 , 2021

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

8

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/..

9

A de novo ATXN2L variant in a child with developmental dela..:

Alzahrani, Fatema ; Albatti, Turki H. ; Alkuraya, Fowzan S.
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 949-951 , 2020

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

10

Analysis of transcript-deleterious variants in Mendelian di..:

Maddirevula, Sateesh ; Kuwahara, Hiroyuki ; Ewida, Nour...
Genome Biology. 21 (2020) 1 - p. , 2020

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

11

Autozygome and high throughput confirmation of disease gene..:

Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed...
Genetics in Medicine. 21 (2019) 3 - p. 736-742 , 2019

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

12

A de novo splicing variant supports the candidacy of TLL1 i..:

Alanzi, Talal ; Alhashem, Amal ; Dagriri, Khalid..
European Journal of Human Genetics. 28 (2019) 4 - p. 525-528 , 2019

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

13

GWAS signals revisited using human knockouts:

Maddirevula, Sateesh ; AlZahrani, Fatema ; Anazi, Shams...
Genetics in Medicine. 20 (2018) 1 - p. 64-68 , 2018

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

14

Expanding the phenome and variome of skeletal dysplasia:

Maddirevula, Sateesh ; Alsahli, Saud ; Alhabeeb, Lamees...
Genetics in Medicine. 20 (2018) 12 - p. 1609-1616 , 2018

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

15

A mendelian form of neural tube defect caused by a de novo ..:

Al Mutairi, Fuad ; Alzahrani, Fatema ; Ababneh, Farouq..
Annals of Neurology. 83 (2018) 2 - p. 433-436 , 2018

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