E-LIB Suche - Ergebnisse für: Gheldof, Alexander

1

Congenital Myasthenic Syndromes in Belgium: Genetic and Cli..:

Smeets, Nathalie ; Gheldof, Alexander ; Dequeker, Bart...
Pediatric Neurology. 158 (2024) - p. 57-65 , 2024

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

2

Identification of RAD17 as a candidate cancer predispositio..:

Joris, Sofie ; Giron, Philippe ; Olsen, Catharina...
BMC Cancer. 24 (2024) 1 - p. , 2024

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

3

The Diagnostic and Therapeutic Challenges of Fabry Nephropa..:

Cauwelaert, Stefan Van ; Geers, Caroline ; Vandervelde, Dominique...
Open Journal of Nephrology. 13 (2023) 4 - p. 349-368 , 2023

Link: https://doi.org/10.4236/..

4

Myotonic dystrophy type 1 embryonic stem cells show decreas..:

Franck, Silvie ; Couvreu De Deckersberg, Edouard ; Bubenik, Jodi L....
Biology Open. 11 (2022) 1 - p. , 2022

Link: https://doi.org/10.1242/..

5

Case report: Coexistence of myotonia congenita and Brugada ..:

Cordenier, Ann ; Flamez, Anja ; de Ravel, Thomy...
Frontiers in Neurology. 13 (2022) - p. , 2022

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

6

A systematic review and evidence assessment of monogenic ge..:

Van Der Kelen, Annelore ; Okutman, Özlem ; Javey, Elodie...
Human Reproduction Update. 29 (2022) 2 - p. 218-232 , 2022

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

7

Ascites in infantile onset type II Sialidosis:

Tazi, Kaoutar ; Guy‐Viterbo, Vanessa ; Gheldof, Alexander...
JIMD Reports. 63 (2022) 4 - p. 316-321 , 2022

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

8

The genetic diagnosis of rare endocrine disorders of sex de..:

Persani, Luca ; Cools, Martine ; Ioakim, Stamatina...
Endocrine Connections. 11 (2022) 12 - p. , 2022

Link: https://doi.org/10.1530/..

9

Impaired catabolism of free oligosaccharides due to MAN2C1 ..:

Maia, Nuno ; Potelle, Sven ; Yildirim, Hamide...
The American Journal of Human Genetics. 109 (2022) 2 - p. 345-360 , 2022

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

10

EDIR: exome database of interspersed repeats:

Vo Ngoc, Laura D T ; Osei, Randy ; Dohr, Katrin...
Bioinformatics. 39 (2022) 1 - p. , 2022

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

11

Intra‐amniotic levothyroxine infusions in a case of fetal g..:

Pollé, Olivier G. ; Gheldof, Alexander ; Lysy, Philippe A..
Clinical Case Reports. 9 (2021) 9 - p. , 2021

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

12

MSH2knock-down shows CTG repeat stability and concomitant u..:

Franck, Silvie ; Barbé, Lise ; Ardui, Simon...
Human Molecular Genetics. 29 (2020) 21 - p. 3566-3577 , 2020

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

13

Novel inactivating follicle-stimulating hormone receptor mu..:

Sassi, Asma ; Désir, Julie ; Janssens, Véronique...
F&S Reports. 1 (2020) 3 - p. 193-201 , 2020

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

14

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, Laura V ; Schot, Rachel ; Kasteleijn, Esmee...
Brain. 142 (2019) 4 - p. 867-884 , 2019

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

15

Clinical implementation of gene panel testing for lysosomal..:

Gheldof, Alexander ; Seneca, Sara ; Stouffs, Katrien...
Molecular Genetics & Genomic Medicine. 7 (2018) 2 - p. , 2018

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