E-LIB Suche - Ergebnisse für: Poulton, Cathryn J.

1

Compromised transcription-mRNA export factor THOC2 causes R..:

Bhattacharjee, Rudrarup ; Jolly, Lachlan A. ; Corbett, Mark A....
Nature Communications. 15 (2024) 1 - p. , 2024

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

2

A metabolic signature for NADSYN1-dependent congenital NAD ..:

Szot, Justin O. ; Cuny, Hartmut ; Martin, Ella M.M.A....
Journal of Clinical Investigation. 134 (2024) 4 - p. , 2024

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

3

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics. 111 (2024) 2 - p. 364-382 , 2024

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

4

Further evidence for distinct traits associated with RBM10 ..:

Poulton, Cathryn ; Baynam, Gareth ; Pugh, Kye...
Clinical Genetics. 102 (2022) 2 - p. 161-163 , 2022

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

5

A flexible computational pipeline for research analyses of ..:

Lassmann, Timo ; Francis, Richard W. ; Weeks, Alexia...
npj Genomic Medicine. 5 (2020) 1 - p. , 2020

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

6

Autosomal recessive congenital ichthyosis due to homozygous..:

Poulton, Cathryn ; Gration, Dylan ; Murray, Kevin..
Pediatric Dermatology. 36 (2019) 6 - p. 1002-1003 , 2019

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

7

Silver Russel syndrome in an aboriginal patient from Austra..:

Poulton, Cathryn ; Azmanov, Dimitar ; Atkinson, Vanessa...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2561-2563 , 2018

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

8

Initiating an undiagnosed diseases program in the Western A..:

Baynam, Gareth ; Broley, Stephanie ; Bauskis, Alicia...
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

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

9

A review of structural brain abnormalities in Pallister‐Kil..:

Poulton, Cathryn ; Baynam, Gareth ; Yates, Clarissa...
Molecular Genetics & Genomic Medicine. 6 (2017) 1 - p. 92-98 , 2017

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

10

Severe presentation of WDR62 mutation: Is there a role for ..:

Poulton, Cathryn J. ; Schot, Rachel ; Seufert, Katja...
American Journal of Medical Genetics Part A. 164 (2014) 9 - p. 2161-2171 , 2014

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

11

A single strand that links multiple neuropathologies in hum..:

Oegema, Renske ; Poulton, Cathryn J. ; Mancini, Grazia M. S.
Brain. 137 (2013) 4 - p. e266-e266 , 2013

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

12

Progressive cerebellar atrophy and polyneuropathy: expandin..:

Poulton, Cathryn ; Oegema, Renske ; Heijsman, Daphne...
neurogenetics. 14 (2012) 1 - p. 43-51 , 2012

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

13

BRAT1-related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stephanie ; Delplancq, Geoffroy...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01410-z. , 2023

Link: https://amu.hal.science/..

14

BRAT1-related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stephanie ; Delplancq, Geoffroy...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01410-z. , 2023

Link: https://amu.hal.science/..

15

Novel diagnostic DNA methylation episignatures expand and r..:

Levy, Michael A ; McConkey, Haley ; Kerkhof, Jennifer...
info:eu-repo/semantics/altIdentifier/pmid/35047860. , 2022

Link: http://hdl.handle.net/24..