E-LIB Suche - Ergebnisse für: Maryke Schoonen

1

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

Neuromuscular disease genetics in under-represented populat..:

Wilson, Lindsay A ; Macken, William L ; Perry, Luke D...
Brain. 146 (2023) 12 - p. 5098-5109 , 2023

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

3

A case for genomic medicine in South African paediatric pat..:

Raga, Sharika V. ; Wilmshurst, Jo Madeleine ; Smuts, Izelle...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Disorders of flavin adenine dinucleotide metabolism: MADD a..:

Mereis, Michelle ; Wanders, Ronald J.A. ; Schoonen, Maryke...
The International Journal of Biochemistry & Cell Biology. 132 (2021) - p. 105899 , 2021

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

5

Characterization of Genetic Variants in the SLC5A5 Gene and..:

Siro, Sicelosethu S. ; Baumgartner, Jeannine ; Schoonen, Maryke...
Frontiers in Nutrition. 8 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

6

bioinformatics pipeline for rare genetic diseases in South ..:

Schoonen, Maryke ; Seyffert, Albertus S. ; Van der Westhuizen, Francois H..
South African Journal of Science. 115 (2019) 3/4 - p. , 2019

Link: https://doi.org/10.17159..

7

A novel mutation in ETFDH manifesting as severe neonatal-on..:

van der Westhuizen, Francois H. ; Smuts, Izelle ; Honey, Engela...
Journal of the Neurological Sciences. 384 (2018) - p. 121-125 , 2018

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

8

The dilemma of diagnosing coenzyme Q10 deficiency in muscle:

Louw, Roan ; Smuts, Izelle ; Wilsenach, Kimmey-Li...
Molecular Genetics and Metabolism. 125 (2018) 1-2 - p. 38-43 , 2018

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

9

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Michelle Bisschoff ; Izelle Smuts ; Marli Dercksen...
https://doi.org/10.1186/s13023-023-03014-8. , 2024

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

10

A case for genomic medicine in South African paediatric pat..:

Sharika V. Raga ; Jo Madeleine Wilmshurst ; Izelle Smuts...
https://www.frontiersin.org/articles/10.3389/fped.2022.1033299/full. , 2022

Link: https://doi.org/10.3389/..

11

Characterization of Genetic Variants in the SLC5A5 Gene and..:

Sicelosethu S. Siro ; Jeannine Baumgartner ; Maryke Schoonen...
https://www.frontiersin.org/articles/10.3389/fnut.2021.692504/full. , 2021

Link: https://doi.org/10.3389/..

12

A bioinformatics pipeline for rare genetic diseases in Sout..:

Maryke Schoonen ; Albertus S. Seyffert ; Francois H. van der Westhuizen.
https://www.sajs.co.za/article/view/4876. , 2019

Link: https://doi.org/10.17159..

13

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8.. , 2024

Link: http://hdl.handle.net/22..

14

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789041/. , 2024

Link: http://www.ncbi.nlm.nih...

15

Neuromuscular disease genetics in under-represented populat..:

Wilson, Lindsay A ; Macken, William L ; Perry, Luke D...
https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdf. , 2023

Link: https://discovery.ucl.ac..