E-LIB Suche - Ergebnisse für: Logan, Clare V.

1

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024

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

2

Regulation of canonical Wnt signalling by the ciliopathy pr..:

Szymanska, Katarzyna ; Boldt, Karsten ; Logan, Clare V...
eLife. 11 (2022) - p. , 2022

Link: https://doi.org/10.7554/..

3

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
Neuron. 109 (2021) 2 - p. 241-256.e9 , 2021

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

4

Biallelic variants inDNA2cause microcephalic primordial dwa..:

Tarnauskaitė, Žygimantė ; Bicknell, Louise S. ; Marsh, Joseph A....
Human Mutation. , 2019

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

5

Gain-of-function DNMT3A mutations cause microcephalic dwarf..:

Heyn, Patricia ; Logan, Clare V. ; Fluteau, Adeline...
Nature Genetics. 51 (2018) 1 - p. 96-105 , 2018

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

6

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 103 (2018) 3 - p. 456 , 2018

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

7

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome wit..:

Logan, Clare V. ; Murray, Jennie E. ; Parry, David A....
The American Journal of Human Genetics. 103 (2018) 6 - p. 1038-1044 , 2018

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

8

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 103 (2018) 2 - p. 221-231 , 2018

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

9

The expanding phenotype of RNU4ATAC pathogenic variants to ..:

Farach, Laura S. ; Little, Mary E. ; Duker, Angela L....
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 465-469 , 2017

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

10

Mutations in DONSON disrupt replication fork stability and ..:

Reynolds, John J ; Bicknell, Louise S ; Carroll, Paula...
Nature Genetics. 49 (2017) 4 - p. 537-549 , 2017

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

11

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR6..:

Parry, David A. ; Smith, Claire E.L. ; El-Sayed, Walid...
The American Journal of Human Genetics. 99 (2016) 4 - p. 984-990 , 2016

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

12

A homozygous STIM1 mutation impairs store-operated calcium ..:

Parry, David A. ; Holmes, Tim D. ; Gamper, Nikita...
Journal of Allergy and Clinical Immunology. 137 (2016) 3 - p. 955-957.e8 , 2016

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

13

Variability of systemic and oro-dental phenotype in two fam..:

Acevedo, Ana Carolina ; Poulter, James A ; Alves, Priscila Gomes...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015

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

14

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutatio..:

Logan, Clare V. ; Cossins, Judith ; Rodríguez Cruz, Pedro M....
The American Journal of Human Genetics. 97 (2015) 6 - p. 878-885 , 2015

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

15

Mutation Screening of Retinal Dystrophy Patients by Targete..:

Watson, Christopher M. ; El-Asrag, Mohammed ; Parry, David A....
PLoS ONE. 9 (2014) 8 - p. e104281 , 2014

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