E-LIB Suche - Ergebnisse für: Race, Valérie

1

Best practice guidelines on genetic diagnostics of faciosca..:

Giardina, Emiliano ; Camaño, Pilar ; Burton‐Jones, Sarah...
Clinical Genetics. 106 (2024) 1 - p. 13-26 , 2024

2

268th ENMC workshop - Genetic diagnosis, clinical classific..:

Montagnese, Federica ; de Valle, Katy ; Lemmers, Richard J.L.F....
Neuromuscular Disorders. 33 (2023) 5 - p. 447-462 , 2023

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

3

Clinical and biological profile of Sickle Cell Anemia child..:

Mbayabo, Gloire ; Ngole, Mamy ; Lumbala, Paul Kabuyi...
Hematology. 28 (2023) 1 - p. , 2023

Link: https://doi.org/10.1080/..

4

Hydroxyurea treatment for adult sickle cell anemia patients..:

Kabuyi, Paul Lumbala ; Mbayabo, Gloire ; Ngole, Mamy...
eJHaem. 4 (2023) 3 - p. 595-601 , 2023

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

5

DNA testing for sickle cell anemia in Africa: Implementatio..:

Ngole, Mamy ; Race, Valerie ; Mbayabo, Gloire...
Journal of Clinical Laboratory Analysis. 36 (2022) 5 - p. , 2022

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

6

Molecular genetic characterization of Congolese patients wi..:

Mavinga, Laetitia Mpola ; Kakiese, Veronique ; Ngole, Mamy...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104611 , 2022

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

7

Value of DNA testing in the diagnosis of sickle‐cell anemia..:

Mbayabo, Gloire ; Lumbala Kabuyi, Paul ; Ngole, Mamy...
Journal of Clinical Laboratory Analysis. 36 (2022) 8 - p. , 2022

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

8

Respiratory onset of amyotrophic lateral sclerosis in a pre..:

Masrori, Pegah ; Ospitalieri, Simona ; Forsberg, Karin...
European Journal of Neurology. 29 (2022) 4 - p. 1279-1283 , 2022

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

9

Clinical and laboratory characterization of adult sickle ce..:

Lumbala, Paul Kabuyi ; Mbayabo, Gloire ; Ngole, Mamy Nzita...
PLOS ONE. 17 (2022) 12 - p. e0278478 , 2022

Link: https://doi.org/10.1371/..

10

Congenital Disorders of Glycosylation in Portugal—Two Decad..:

Quelhas, Dulce ; Martins, Esmeralda ; Azevedo, Luísa...
The Journal of Pediatrics. 231 (2021) - p. 148-156 , 2021

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

11

RNF170 mutation causes autosomal dominant sensory ataxia wi..:

Van Daele, Sien H. ; Moisse, Matthieu ; Race, Valérie...
European Journal of Neurology. 29 (2021) 1 - p. 345-349 , 2021

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

12

Unusual phenotypical findings in two unrelated Belgian pati..:

Remiche, Gauthier ; Nortier, Joëlle ; Vandernoot, Isabelle...
Neurology. 96 (2021) 15_supplement - p. , 2021

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

13

SLC37A4‐CDG: Second patient:

Wilson, Matthew P. ; Quelhas, Dulce ; Leão‐Teles, Elisa...
JIMD Reports. 58 (2021) 1 - p. 122-128 , 2021

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

14

Challenges in molecular diagnosis of X-linked Intellectual ..:

De Luca, Chiara ; Race, Valérie ; Keldermans, Liesbeth..
British Medical Bulletin. , 2020

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

15

Parkinson's Disease with a Homozygous PARK7 Mutation and Cl..:

Delva, Aline ; Race, Valérie ; Boon, Elizabet..
Movement Disorders Clinical Practice. 8 (2020) 1 - p. 149-152 , 2020

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