E-LIB Suche - Ergebnisse für: Boon, Laurence M

1

Loss-of-function mutations of the TIE1 receptor tyrosine ki..:

Brouillard, Pascal ; Murtomäki, Aino ; Leppänen, Veli-Matti...
Journal of Clinical Investigation. , 2024

2

Direct oral anticoagulants and venous malformations: litera..:

Lagneaux, Eugénie ; Boon, Laurence M. ; Revencu, Nicole..
Research and Practice in Thrombosis and Haemostasis. 8 (2024) 3 - p. 102400 , 2024

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

3

Targeted treatment in complex lymphatic anomaly: a case of ..:

Seront, Emmanuel ; Froidure, Antoine ; Revencu, Nicole...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

4

Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot ..:

De Bortoli, Martina ; Queisser, Angela ; Pham, Van Cuong...
Journal of Investigative Dermatology. , 2024

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

5

Epilepsy with faint capillary malformation or reticulated t..:

De Bortoli, Martina ; Ivars, Marta ; Revencu, Nicole...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

6

Pathogenic variants in HGF give rise to childhood-to-late o..:

Alpaslan, Murat ; Fastré, Elodie ; Mestre, Sandrine...
Human Molecular Genetics. 33 (2024) 14 - p. 1250-1261 , 2024

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

7

The VASCERN-VASCA Working Group Diagnostic and Management P..:

Dompmartin, Anne ; Baselga, Eulalia ; Boon, Laurence M....
Journal of Vascular Anomalies. 4 (2023) 2 - p. e064 , 2023

Link: https://doi.org/10.1097/..

8

Preliminary results of the European multicentric phase III ..:

Seront, Emmanuel ; Van Damme, An ; Legrand, Catherine...
JCI Insight. 8 (2023) 21 - p. , 2023

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

9

Parkes Weber Syndrome: Contribution of the Genotype to the ..:

Andreoti, Themis-Areti A. ; Tuleja, Aleksandra ; Döring, Yvonne...
Journal of Vascular Anomalies. 4 (2023) 4 - p. e076 , 2023

Link: https://doi.org/10.1097/..

10

The VASCERN-VASCA working group diagnostic and management p..:

Diociaiuti, Andrea ; Baselga, Eulalia ; Boon, Laurence M....
European Journal of Medical Genetics. 65 (2022) 6 - p. 104517 , 2022

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

11

Trametinib as a promising therapeutic option in alleviating..:

Nguyen, Ha-Long ; Boon, Laurence M ; Vikkula, Miikka
Human Molecular Genetics. 32 (2022) 2 - p. 276-289 , 2022

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

12

The VASCERN-VASCA working group diagnostic and management p..:

Ghaffarpour, Nader ; Baselga, Eulalia ; Boon, Laurence M....
European Journal of Medical Genetics. 65 (2022) 12 - p. 104637 , 2022

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

13

BiallelicANGPT2loss-of-function causes severe early-onset n..:

Smeland, Marie F. ; Brouillard, Pascal ; Prescott, Trine...
Journal of Medical Genetics. 60 (2021) 1 - p. 57-64 , 2021

Link: https://doi.org/10.1136/..

14

KRAS-driven model of Gorham-Stout disease effectively treat..:

Homayun Sepehr, Nassim ; McCarter, Anna L. ; Helaers, Raphaël...
JCI Insight. , 2021

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

15

Non-hotspot PIK3CA mutations are more frequent in CLOVES th..:

Brouillard, Pascal ; Schlögel, Matthieu J. ; Homayun Sepehr, Nassim...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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