E-LIB Suche - Ergebnisse für: Ghaoui, Roula

1

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 5 - p. 1250-1266 , 2024

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

2

RFC1 in an Australasian neurological disease cohort: extend..:

Scriba, Carolin K ; Stevanovski, Igor ; Chintalaphani, Sanjog R...
Brain Communications. 5 (2023) 4 - p. , 2023

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

3

Expanding the phenotype of DNMT3A as a cause a congenital m..:

Ghaoui, Roula ; Ha, Thuong T. ; Kerkhof, Jennifer...
Neuromuscular Disorders. 33 (2023) 6 - p. 484-489 , 2023

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

4

Patient care standards for primary mitochondrial disease in..:

Sue, Carolyn M. ; Balasubramaniam, Shanti ; Bratkovic, Drago...
Internal Medicine Journal. 52 (2021) 1 - p. 110-120 , 2021

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

5

Expanding the disease phenotype of ADSSL1-associated myopat..:

Mroczek, Magdalena ; Durmus, Hacer ; Bijarnia-Mahay, Sunita...
Neuromuscular Disorders. 30 (2020) 4 - p. 310-314 , 2020

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

6

Genetic mimics of cerebral palsy:

Pearson, Toni S. ; Pons, Roser ; Ghaoui, Roula.
Movement Disorders. 34 (2019) 5 - p. 625-636 , 2019

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

7

Recessive DES cardio/myopathy without myofibrillar aggregat..:

Riley, Lisa G. ; Waddell, Leigh B. ; Ghaoui, Roula...
European Journal of Human Genetics. 27 (2019) 8 - p. 1267-1273 , 2019

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

8

Progressive cranial neuropathy and uterine involvement in m..:

Khoo, Anthony ; Kimber, Thomas ; Cohen, Penelope.
BMJ Neurology Open. 1 (2019) 1 - p. e000006 , 2019

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

9

Pathogenic Abnormal Splicing Due to Intronic Deletions that..:

Bryen, Samantha J. ; Joshi, Himanshu ; Evesson, Frances J....
The American Journal of Human Genetics. 105 (2019) 3 - p. 573-587 , 2019

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

10

Movement disorders in mitochondrial disease:

Ghaoui, Roula ; Sue, Carolyn M.
Journal of Neurology. 265 (2018) 5 - p. 1230-1240 , 2018

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

11

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/..

12

Prominent scapulae mimicking an inherited myopathy expands ..:

O'Grady, Gina L ; Ma, Alan ; Sival, Deborah...
European Journal of Human Genetics. 24 (2016) 8 - p. 1216-1219 , 2016

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

13

Mutations inHSPB8causing a new phenotype of distal myopathy..:

Ghaoui, Roula ; Palmio, Johanna ; Brewer, Janice...
Neurology. 86 (2016) 4 - p. 391-398 , 2016

Link: https://doi.org/10.1212/..

14

TOR1AIP1 as a cause of cardiac failure and recessive limb-g..:

Ghaoui, Roula ; Benavides, Tatiana ; Lek, Monkol...
Neuromuscular Disorders. 26 (2016) 8 - p. 500-503 , 2016

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

15

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/..