E-LIB Suche - Ergebnisse für: Alkuraya, Fowzan S.

1

Human ABL1 deficiency syndrome (HADS) is a recognizable syn..:

AlAbdi, Lama ; Neuhann, Teresa ; Prott, Eva-Christina...
Human Genetics. 143 (2024) 6 - p. 739-745 , 2024

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

2

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain. 147 (2024) 5 - p. 1822-1836 , 2024

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

3

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

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

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

4

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine. 26 (2024) 2 - p. 101029 , 2024

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

5

Bi-allelic variants in HCRT cause autosomal recessive narco..:

Hakami, Wejdan ; Thabet, Farah ; Alhashem, Amal...
neurogenetics. , 2024

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

6

A founder variant expands the phenotype of WNT7B‐related PD..:

AlAbdi, Lama ; Rahbeeni, Zuhair ; Maddirevula, Sateesh...
Clinical Genetics. 106 (2024) 1 - p. 66-71 , 2024

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

7

Vitamin D-binding protein deficiency: an underrecognized Me..:

Al Masseri, Zainab ; Alqahtani, Mashael ; Almoshawer, Eman.
Human Genetics. 143 (2024) 2 - p. 101-105 , 2024

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

8

Hypomorphic variants of SEL1L-HRD1 ER-associated degradatio..:

Wang, Huilun H. ; Lin, Liangguang L. ; Li, Zexin J....
Journal of Clinical Investigation. 134 (2024) 2 - p. , 2024

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

9

Joint contractures is a recurrent clinical feature of indiv..:

Peduto, Cristina ; Cappuccio, Gerarda ; Zeuli, Roberta...
American Journal of Medical Genetics Part A. , 2024

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

10

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/..

11

Functional studies in yeast confirm the pathogenicity of a ..:

Mehrjoo, Yosra ; Campeau, Philippe M. ; Al Abdi, Lama...
Clinical Genetics. , 2024

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

12

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/..

13

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/..

14

Clinical and molecular features of four families with CLDN1..:

Qudair, Ahmad ; Hussein, Maged ; Alowain, Mohammed...
European Journal of Medical Genetics. 66 (2023) 12 - p. 104886 , 2023

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

15

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine. 25 (2023) 6 - p. 100828 , 2023

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