E-LIB Suche - Ergebnisse für: Leslie, Joseph

1

TECPR2‐related hereditary sensory and autonomic neuropathy ..:

Khalaf‐Nazzal, Reham ; Dweikat, Imad ; Ubeyratna, Nishanka...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

2

Biallelic Variants in MNS1 Are Associated with Laterality D..:

Hjeij, Rim ; Leslie, Joseph ; Rizk, Hoda...
Cells. 13 (2024) 12 - p. 1017 , 2024

Link: https://doi.org/10.3390/..

3

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPo..:

Rawlins, Lettie E. ; Almousa, Hashem ; Khan, Shazia...
PLOS Genetics. 18 (2022) 3 - p. e1010114 , 2022

Link: https://doi.org/10.1371/..

4

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/..

5

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
Brain. 145 (2022) 9 - p. 3095-3107 , 2022

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

6

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S. ; Hjeij, Rim ; Vivante, Asaf...
Genetics in Medicine. 24 (2022) 11 - p. 2249-2261 , 2022

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

7

Uncovering the burden of hidden ciliopathies in the 100 000..:

Best, Sunayna ; Yu, Jing ; Lord, Jenny...
Journal of Medical Genetics. 59 (2022) 12 - p. 1151-1164 , 2022

Link: https://doi.org/10.1136/..

8

Bi-allelic CAMSAP1 variants cause a clinically recognizable..:

Khalaf-Nazzal, Reham ; Fasham, James ; Inskeep, Katherine A....
The American Journal of Human Genetics. 109 (2022) 11 - p. 2068-2079 , 2022

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

9

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gen..:

Lin, Siying ; Sanchez-Bretaño, Aida ; Leslie, Joseph S....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

10

Consolidating biallelic SDHD variants as a cause of mitocho..:

Lin, Siying ; Fasham, James ; Al-Hijawi, Fida'...
European Journal of Human Genetics. 29 (2021) 10 - p. 1570-1576 , 2021

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

11

Biallelic PI4KA variants cause neurological, intestinal and..:

Salter, Claire G ; Cai, Yiying ; Lo, Bernice...
Brain. 144 (2021) 12 - p. 3597-3610 , 2021

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

12

Dominant mitochondrial membrane protein-associated neurodeg..:

Rickman, Olivia J. ; Salter, Claire G. ; Gunning, Adam C....
Parkinsonism & Related Disorders. 82 (2021) - p. 84-86 , 2021

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

13

Final Exon Frameshift Biallelic PTPN23 Variants Are Associa..:

Khalaf-Nazzal, Reham ; Fasham, James ; Ubeyratna, Nishanka...
Brain Sciences. 11 (2021) 5 - p. 614 , 2021

Link: https://doi.org/10.3390/..

14

A biallelic SNIP1 Amish founder variant causes a recognizab..:

Ammous, Zineb ; Rawlins, Lettie E. ; Jones, Hannah...
PLOS Genetics. 17 (2021) 9 - p. e1009803 , 2021

Link: https://doi.org/10.1371/..

15

No association between SCN9A and monogenic human epilepsy d..:

Fasham, James ; Leslie, Joseph S. ; Harrison, Jamie W....
PLOS Genetics. 16 (2020) 11 - p. e1009161 , 2020

Link: https://doi.org/10.1371/..