E-LIB Suche - Ergebnisse für: SAMPAIO, HUGO L.

1

Newborn screening for Duchenne muscular dystrophy: the pers..:

Ji, Charli ; Kariyawasam, Didu S. ; Sampaio, Hugo...
The Lancet Regional Health - Western Pacific. 45 (2024) - p. 101049 , 2024

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

2

Loss of TBC1D2B causes a progressive neurological disorder ..:

Harms, Frederike L. ; Rexach, Jessica Erin ; Efthymiou, Stephanie...
European Journal of Human Genetics. 32 (2024) 5 - p. 558-566 , 2024

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

3

Newborn screening for spinal muscular atrophy in Australia:..:

Kariyawasam, Didu S ; D'Silva, Arlene M ; Sampaio, Hugo...
The Lancet Child & Adolescent Health. 7 (2023) 3 - p. 159-170 , 2023

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

4

CSF neopterin, quinolinic acid and kynurenine/tryptophan ra..:

Yan, Jingya ; Kothur, Kavitha ; Mohammad, Shekeeb...
eBioMedicine. 91 (2023) - p. 104589 , 2023

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

5

Diagnosis and management of children with McArdle Syndrome ..:

Adams, Louisa ; Selvanathan, Arthavan ; Batten, Kiera J....
JIMD Reports. 64 (2023) 5 - p. 327-336 , 2023

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

6

DHDDS and NUS1: A Converging Pathway and Common Phenotype:

Williams, Laura J. ; Waller, Sophie ; Qiu, Jessica...
Movement Disorders Clinical Practice. 11 (2023) 1 - p. 76-85 , 2023

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

7

Urgent computed tomography angiography in paediatric stroke:

Briest, Romain C. ; Cheung, Andrew K. ; Kandula, Tejaswi...
Developmental Medicine & Child Neurology. 65 (2022) 1 - p. 126-135 , 2022

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

8

Onasemnogene abeparvovec in spinal muscular atrophy: an Aus..:

D'Silva, Arlene M. ; Holland, Sandra ; Kariyawasam, Didu...
Annals of Clinical and Translational Neurology. 9 (2022) 3 - p. 339-350 , 2022

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

9

Incidence of Duchenne muscular dystrophy in the modern era;..:

Kariyawasam, Didu ; D'Silva, Arlene ; Mowat, David...
European Journal of Human Genetics. 30 (2022) 12 - p. 1398-1404 , 2022

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

10

Effect of a multicomponent nutritional supplement on functi..:

Davidson, Zoe E. ; Hughes, Ian ; Ryan, Monique M....
Clinical Nutrition. 40 (2021) 7 - p. 4702-4711 , 2021

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

11

Social Media and Sustainable Tourism Marketing: Perceptions..:

, In: World Sustainability Series; Handbook of Sustainable Development and Leisure Services,

Correia, Alexandra I. ; Sampaio, Hugo A. ; Fonseca, Manuel J... - p. 303-318 , 2021

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

12

Growth and nutrition in pediatric neuromuscular disorders:

Chou, Elle ; Lindeback, Rachel ; D'Silva, Arlene M....
Clinical Nutrition. 40 (2021) 6 - p. 4341-4348 , 2021

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

13

Diagnostic Yield of Whole Genome Sequencing After Nondiagno..:

Palmer, Elizabeth Emma ; Sachdev, Rani ; Macintosh, Rebecca...
Neurology. 96 (2021) 13 - p. , 2021

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

14

Biallelic loss‐of‐function variants inTBC1D2Bcause a neurod..:

Harms, Frederike L. ; Parthasarathy, Padmini ; Zorndt, Dennis...
Human Mutation. 41 (2020) 9 - p. 1645-1661 , 2020

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

15

Changes in grassland management and linear infrastructures ..:

Marques, Ana Teresa ; Moreira, Francisco ; Alcazar, Rita...
Scientific Reports. 10 (2020) 1 - p. , 2020

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