E-LIB Suche - Ergebnisse für: Guillemyn, Brecht

1

Bi‐allelic mutation in SEC16B alters collagen trafficking a..:

El‐Gazzar, Ahmed ; Voraberger, Barbara ; Rauch, Frank...
EMBO Molecular Medicine. 15 (2023) 4 - p. , 2023

2

Syntaxin 18 Defects in Human and Zebrafish Unravel Key Role..:

Guillemyn, Brecht ; De Saffel, Hanna ; Bek, Jan Willem...
Journal of Bone and Mineral Research. 38 (2023) 11 - p. 1718-1730 , 2023

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

3

A tapt1 knock-out zebrafish line with aberrant lens develop..:

Jarayseh, Tamara ; Guillemyn, Brecht ; De Saffel, Hanna...
Human Genetics. 142 (2023) 3 - p. 457-476 , 2023

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

4

Loss of TANGO1 Leads to Absence of Bone Mineralization:

Guillemyn, Brecht ; Nampoothiri, Sheela ; Syx, Delfien..
JBMR Plus. 5 (2021) 3 - p. , 2021

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

5

Biallelic variants in MESD, which encodes a WNT-signaling-r..:

Tran, Thao T. ; Keller, Rachel B. ; Guillemyn, Brecht...
Human Genetics and Genomics Advances. 2 (2021) 4 - p. 100051 , 2021

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

6

Aberrant binding of mutant HSP47 affects posttranslational ..:

Syx, Delfien ; Ishikawa, Yoshihiro ; Gebauer, Jan...
PLOS Genetics. 17 (2021) 2 - p. e1009339 , 2021

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

7

Functional characterization of the first missense variant i..:

Ascari, Giulia ; Peelman, Frank ; Farinelli, Pietro...
Human Mutation. 41 (2020) 5 - p. 998-1011 , 2020

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

8

Functional characterization of novel MFSD8 pathogenic varia..:

Bauwens, Miriam ; Storch, Stephan ; Weisschuh, Nicole...
Clinical Genetics. 97 (2019) 3 - p. 426-436 , 2019

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

9

A homozygous pathogenic missense variant broadens the pheno..:

Guillemyn, Brecht ; Kayserili, Hülya ; Demuynck, Lynn...
Human Molecular Genetics. 28 (2019) 11 - p. 1801-1809 , 2019

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

10

Nucleic acids enrichment of fungal pathogens to study host-..:

Rodríguez, Antonio ; Guillemyn, Brecht ; Coucke, Paul.
Scientific Reports. 9 (2019) 1 - p. , 2019

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

11

Ptosis as a unique hallmark for autosomal recessive WNT1‐as..:

Nampoothiri, Sheela ; Guillemyn, Brecht ; Elcioglu, Nursel...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 908-914 , 2019

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

12

The clinical and mutational spectrum of B3GAT3 linkeropathy..:

Colman, Marlies ; Van Damme, Tim ; Steichen-Gersdorf, Elisabeth...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

13

Zebrafish type I collagen mutants faithfully recapitulate h..:

Gistelinck, Charlotte ; Kwon, Ronald Y. ; Malfait, Fransiska...
Proceedings of the National Academy of Sciences. 115 (2018) 34 - p. , 2018

Link: https://doi.org/10.1073/..

14

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers..:

Van Damme, Tim ; Pang, Xiaomeng ; Guillemyn, Brecht...
Human Molecular Genetics. 27 (2018) 20 - p. 3475-3487 , 2018

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

15

Zebrafish type I collagen mutants faithfully recapitulate h..:

Gistelinck, Charlotte ; Kwon, Ronald Y. ; Malfait, Fransiska...
Proceedings of the National Academy of Sciences of the United States of America. 115 (2018) 34 - p. E8037-E8046 , 2018

Link: https://www.jstor.org/st..