E-LIB Suche - Ergebnisse für: AlAbdi, Lama

1

Bi-allelic variants in CEP295 cause Seckel-like syndrome pr..:

Li, Niu ; Xu, Yufei ; Chen, Hongzhu...
eBioMedicine. 99 (2024) - p. 104940 , 2024

2

Whole-exome sequencing identifies cancer-associated variant..:

Binobaid, Lama ; As Sobeai, Homood M. ; Alhazzani, Khalid...
Saudi Pharmaceutical Journal. 32 (2024) 3 - p. 101961 , 2024

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

3

Clinical utility of polygenic scores for cardiometabolic di..:

Shim, Injeong ; Kuwahara, Hiroyuki ; Chen, NingNing...
Nature Communications. 14 (2023) 1 - p. , 2023

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

4

P102: KIF26A is mutated in the syndrome of congenital hydro..:

Almannai, Mohammed ; AlAbdi, Lama ; Maddirevula, Sateesh...
Genetics in Medicine Open. 1 (2023) 1 - p. 100131 , 2023

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

5

Cone dystrophy associated with autoimmune polyglandular syn..:

Badawi, Abdulrahman ; Magliyah, Moustafa ; Alabbasi, Omar...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

6

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain. 146 (2023) 12 - p. 5031-5043 , 2023

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

7

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/..

8

Beyond the exome: utility of long-read whole genome sequenc..:

AlAbdi, Lama ; Shamseldin, Hanan E. ; Khouj, Ebtissal...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

9

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 7 - p. 1567-1582 , 2022

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

10

PMEL is mutated in oculocutaneous albinism:

AlAbdi, Lama ; Alshammari, Muneera ; Helaby, Rana..
Human Genetics. 142 (2022) 1 - p. 139-144 , 2022

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

11

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 10 - p. 2207 , 2022

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

12

Loss-of-function variants in MYCBP2 cause neurobehavioural ..:

AlAbdi, Lama ; Desbois, Muriel ; Rusnac, Domniţa-Valeria...
Brain. 146 (2022) 4 - p. 1373-1387 , 2022

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

13

KIF26A is mutated in the syndrome of congenital hydrocephal..:

Almannai, Mohammed ; AlAbdi, Lama ; Maddirevula, Sateesh...
Human Genetics. 142 (2022) 3 - p. 399-405 , 2022

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

14

Genetic testing results of children suspected to have Stick..:

Khan, Arif O. ; AlAbdi, Lama ; Patel, Nisha...
Molecular Genetics & Genomic Medicine. 9 (2021) 5 - p. , 2021

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

15

Misregulation of the expression and activity of DNA methylt..:

Mensah, Isaiah K ; Norvil, Allison B ; AlAbdi, Lama...
NAR Cancer. 3 (2021) 4 - p. , 2021

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