E-LIB Suche - Ergebnisse für: Corveleyn, Anniek

1

Heterozygous mutations in the C-terminal domain of COPA und..:

Delafontaine, Selket ; Iannuzzo, Alberto ; Bigley, Tarin M....
Journal of Clinical Investigation. 134 (2024) 4 - p. , 2024

Link: https://doi.org/10.1172/..

2

Tools to differentiate between Filamin C and Titin truncati..:

Jacobs, Johanna ; Van Aelst, Lucas ; Breckpot, Jeroen...
European Journal of Human Genetics. 31 (2023) 11 - p. 1323-1332 , 2023

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

3

Child Neurology: Familial Hemophagocytic Lymphohistiocytosi..:

Bucciol, Giorgia ; Willemyns, Nele ; Verhaaren, Benjamin...
Neurology. 99 (2022) 15 - p. 660-664 , 2022

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

4

Common variable immunodeficiency in two kindreds with heter..:

Staels, Frederik ; De Keukeleere, Kerstin ; Kinnunen, Matias...
Frontiers in Immunology. 13 (2022) - p. , 2022

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

5

A Novel Kindred with MyD88 Deficiency:

Bucciol, Giorgia ; Moens, Leen ; Corveleyn, Anniek..
Journal of Clinical Immunology. 42 (2022) 4 - p. 885-888 , 2022

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

6

Pathogenic P554S Variant in TLR3 in a Patient with Severe I..:

Bucciol, Giorgia ; Desmet, Lars ; Moens, Leen...
Journal of Clinical Immunology. 42 (2021) 2 - p. 430-432 , 2021

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

7

Frequency of Participation in External Quality Assessment P..:

Lantoine, Joséphine ; Brysse, Anne ; Dideberg, Vinciane...
JMIR Medical Informatics. 9 (2021) 7 - p. e27980 , 2021

Link: https://doi.org/10.2196/..

8

Enhancing rare variant interpretation in inherited arrhythm..:

Walsh, Roddy ; Lahrouchi, Najim ; Tadros, Rafik...
Genetics in Medicine. 23 (2021) 1 - p. 47-58 , 2021

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

9

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension o..:

Staels, Frederik ; Betrains, Albrecht ; Doubel, Peter...
Frontiers in Immunology. 11 (2020) - p. , 2020

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

10

Pathogenic TLR3 Variant in a Patient with Recurrent Herpes ..:

Bucciol, Giorgia ; Delafontaine, Selket ; Moens, Leen...
Journal of Clinical Immunology. 41 (2020) 1 - p. 280-282 , 2020

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

11

BCAP31-related syndrome: The first de novo report:

Rinaldi, Berardo ; Van Hoof, Evelien ; Corveleyn, Anniek..
European Journal of Medical Genetics. 63 (2020) 2 - p. 103732 , 2020

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

12

P1799GENOTYPE-PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD CO..:

Mekahli, Djalila ; Harris, Peter ; Audrezet, Marie-Pierre...
Nephrology Dialysis Transplantation. 35 (2020) Supplement_3 - p. , 2020

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

13

Next-generation sequencing in prenatal setting: Some exampl..:

Rinaldi, Berardo ; Race, Valerie ; Corveleyn, Anniek...
European Journal of Medical Genetics. 63 (2020) 5 - p. 103875 , 2020

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

14

Clinical and ECG variables to predict the outcome of geneti..:

Robyns, Tomas ; Breckpot, Jeroen ; Nuyens, Dieter...
European Journal of Medical Genetics. 63 (2020) 3 - p. 103754 , 2020

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

15

A double-edged sword:

Vandebotermet, Martijn ; Staels, Frederik ; Giovannozzi, Simone...
Breathe. 16 (2020) 3 - p. 200017 , 2020

Link: https://doi.org/10.1183/..