E-LIB Suche - Ergebnisse für: Shamseldin, Hanan E

1

Clinical exome sequencing by general pediatricians: high cl..:

Baz, Danya Salah ; Baz, Dareen ; Alrwuili, Fawzah...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

2

Biallelic NAA60 variants with impaired N-terminal acetylati..:

Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Genomic analysis of presumed perinatal stroke in Saudi Arab..:

Alshammari, Muneera J. ; Shamseldin, Hanan E. ; Essbaiheen, Fahad...
Human Genetics. 143 (2024) 1 - p. 59-69 , 2024

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

4

Further delineation of the phenotypic and metabolomic profi..:

You, Mikyoung ; Shamseldin, Hanan E. ; Fogle, Halle M....
Clinical Genetics. 105 (2024) 5 - p. 488-498 , 2024

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

5

A founder DBR1 variant causes a lethal form of congenital i..:

Shamseldin, Hanan E. ; Sadagopan, Mukunth ; Martini, Javier...
Human Genetics. 142 (2023) 10 - p. 1491-1498 , 2023

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

6

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/..

7

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
Brain. 146 (2023) 11 - p. 4547-4561 , 2023

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

8

PRSS8, encoding prostasin, is mutated in patients with auto..:

Shamseldin, Hanan E. ; Derar, Nada ; Alzaidan, Hamad...
Human Genetics. 142 (2023) 4 - p. 477-482 , 2023

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

9

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/..

10

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/..

11

PLXNA2 as a candidate gene in patients with intellectual di..:

Altuame, Fadie D. ; Shamseldin, Hanan E. ; Albatti, Turki H....
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3859-3865 , 2021

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

12

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/..

13

Mitochondrial "dysmorphology" in variant classification:

Shamseldin, Hanan E. ; Alhashem, Amal ; Tabarki, Brahim...
Human Genetics. 141 (2021) 1 - p. 55-64 , 2021

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

14

Vitamin B12 deficiency secondary to cobalamin F deficiency ..:

Altawil, Lama ; Alshihry, Hind ; Ahmed, Hala..
JAAD Case Reports. 6 (2020) 9 - p. 882-885 , 2020

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

15

An exome-first approach to aid in the diagnosis of primary ..:

Shamseldin, Hanan E. ; Al Mogarri, Ibrahim ; Alqwaiee, Mansour M....
Human Genetics. 139 (2020) 10 - p. 1273-1283 , 2020

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