E-LIB Suche - Ergebnisse für: Oates, Emily C.

1

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology. , 2024

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

2

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
Acta Neuropathologica. 141 (2021) 3 - p. 431-453 , 2021

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

3

Genotype–phenotype correlations in recessive titinopathies:

Savarese, Marco ; Vihola, Anna ; Oates, Emily C....
Genetics in Medicine. 22 (2020) 12 - p. 2029-2040 , 2020

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

4

Pathogenic deep intronic MTM1 variant activates a pseudo-ex..:

Bryen, Samantha J. ; Oates, Emily C. ; Evesson, Frances J....
European Journal of Human Genetics. 29 (2020) 1 - p. 61-66 , 2020

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

5

Recessive MYH7-related myopathy in two families:

Beecroft, Sarah J. ; van de Locht, Martijn ; de Winter, Josine M....
Neuromuscular Disorders. 29 (2019) 6 - p. 456-467 , 2019

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

6

Congenital Titinopathy: Comprehensive characterization and ..:

Oates, Emily C. ; Jones, Kristi J. ; Donkervoort, Sandra...
Annals of Neurology. 83 (2018) 6 - p. 1105-1124 , 2018

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

7

Diagnosis and etiology of congenital muscular dystrophy: We..:

O'Grady, Gina L. ; Lek, Monkol ; Lamande, Shireen R....
Annals of Neurology. 80 (2016) 1 - p. 101-111 , 2016

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

8

Loss-of-function mutations inSCN4Acause severe foetal hypok..:

Zaharieva, Irina T. ; Thor, Michael G. ; Oates, Emily C....
Brain. 139 (2015) 3 - p. 674-691 , 2015

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

9

Reply: The p.Ser107Leu inBICD2is a mutation 'hot spot' caus..:

Rossor, Alexander M. ; Oates, Emily C. ; Salter, Hannah K....
Brain. 138 (2015) 11 - p. e392-e392 , 2015

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

10

Phenotypic and molecular insights into spinal muscular atro..:

Rossor, Alexander M. ; Oates, Emily C. ; Salter, Hannah K....
Brain. 138 (2014) 2 - p. 293-310 , 2014

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

11

Longitudinal assessment of cognition and T2‐hyperintensitie..:

Payne, Jonathan M. ; Pickering, Tania ; Porter, Melanie...
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 661-665 , 2013

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

12

Neuromuscular junction abnormalities in DNM2-related centro..:

Gibbs, Elizabeth M. ; Clarke, Nigel F. ; Rose, Kristy...
Journal of Molecular Medicine. 91 (2013) 6 - p. 727-737 , 2013

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

13

Young Australian adults with NF1 have poor access to health..:

Oates, Emily C. ; Payne, Jonathan M. ; Foster, Sheryl L...
American Journal of Medical Genetics Part A. 161 (2013) 4 - p. 659-666 , 2013

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

14

Autosomal dominant congenital spinal muscular atrophy: a tr..:

Oates, Emily C. ; Reddel, Stephen ; Rodriguez, Michael L....
Brain. 135 (2012) 6 - p. 1714-1723 , 2012

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

15

Improving genetic diagnosis in Mendelian disease with trans..:

Cummings, Beryl B ; Marshall, Jamie L ; Tukiainen, Taru...
Science Translational Medicine, Vol.9 No.386, p. eaal5209. , 2023

Link: https://hdl.handle.net/1..