E-LIB Suche - Ergebnisse für: Salter, Claire G.

1

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/..

2

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/..

3

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/..

4

Delineating the expanding phenotype associated with SCAPER ..:

Fasham, James ; Arno, Gavin ; Lin, Siying...
American Journal of Medical Genetics Part A. 179 (2019) 8 - p. 1665-1671 , 2019

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

5

Growth disrupting mutations in epigenetic regulatory molecu..:

Jeffries, Aaron R. ; Maroofian, Reza ; Salter, Claire G....
Genome Research. 29 (2019) 7 - p. 1057-1066 , 2019

Link: https://doi.org/10.1101/..

6

MNS1 variant associated with situs inversus and male infert..:

Leslie, Joseph S. ; Rawlins, Lettie E. ; Chioza, Barry A....
European Journal of Human Genetics. 28 (2019) 1 - p. 50-55 , 2019

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

7

Choline transporter mutations in severe congenital myasthen..:

Wang, Haicui ; Salter, Claire G ; Refai, Osama...
Brain. 140 (2017) 11 - p. 2838-2850 , 2017

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

8

A mutation ofEPT1 (SELENOI)underlies a new disorder of Kenn..:

Ahmed, Mustafa Y. ; Al-Khayat, Aisha ; Al-Murshedi, Fathiya...
Brain. , 2017

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

9

Further defining the phenotypic spectrum ofB4GALT7mutations:

Salter, Claire G. ; Davies, Justin H. ; Moon, Rebecca J....
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1556-1563 , 2016

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

10

Expanding the ocular phenotype of 14q terminal deletions: A..:

Salter, Claire G. ; Baralle, Diana ; Collinson, Morag N..
American Journal of Medical Genetics Part A. 170 (2016) 4 - p. 1017-1022 , 2016

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

11

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
https://www.repository.cam.ac.uk/handle/1810/335811. , 2022

Link: https://www.repository.c..

12

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
https://discovery.ucl.ac.uk/id/eprint/10151035/1/awac123.pdf. , 2022

Link: https://discovery.ucl.ac..

13

TMEM63C mutations cause mitochondrial morphology defects an..:

Tabara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
https://discovery.ucl.ac.uk/id/eprint/10160340/1/Houlden_TMEM63C%20mutations%20cause%20mitochondrial%20morphology%20defects%20and%20underlie%20hereditary%20spastic%20paraplegia_correction_VoR.pdf. , 2022

Link: https://discovery.ucl.ac..

14

Biallelic PI4KA variants cause neurological, intestinal and..:

Salter, Claire G ; Cai, Yiying ; Lo, Bernice...
qt9g7991s4. , 2021

Link: https://escholarship.org..

15

Widening of the genetic and clinical spectrum of Lamb–Shaff..:

Zawerton, Ash ; Mignot, Cyril ; Sigafoos, Ashley...
qt14x4x4wp. , 2020

Link: https://escholarship.org..