E-LIB Suche - Ergebnisse für: Beyens, Aude

1

HRAS‐related epidermal nevus syndromes: Expansion of the sp..:

Beyens, Aude ; Lietaer, Charlotte ; Claes, Kathleen...
Clinical Genetics. 103 (2023) 6 - p. 709-713 , 2023

2

Identification of Codon 146 KRAS Variants in Isolated Epide..:

Beyens, Aude ; Dequeker, Laure ; Brems, Hilde...
International Journal of Molecular Sciences. 23 (2022) 7 - p. 4036 , 2022

Link: https://doi.org/10.3390/..

3

Correction to: Clinical and Molecular Delineation of Cutis ..:

, In: Advances in Experimental Medicine and Biology; Progress in Heritable Soft Connective Tissue Diseases,

Beyens, Aude ; Pottie, Lore ; Sips, Patrick. - p. C1-C1 , 2021

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

4

Clinical and Molecular Delineation of Cutis Laxa Syndromes:..:

, In: Advances in Experimental Medicine and Biology; Progress in Heritable Soft Connective Tissue Diseases,

Beyens, Aude ; Pottie, Lore ; Sips, Patrick. - p. 273-309 , 2021

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

5

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Co..:

Verlee, Maxim ; Beyens, Aude ; Gezdirici, Alper...
Genes. 12 (2021) 4 - p. 510 , 2021

Link: https://doi.org/10.3390/..

6

Severe congenital cutis laxa: Identification of novel homoz..:

McKenzie, Fiona ; Mina, Kym ; Callewaert, Bert...
Clinical Genetics. 100 (2021) 2 - p. 168-175 , 2021

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

7

Cutis laxa: A comprehensive overview of clinical characteri..:

Beyens, Aude ; Boel, Annekatrien ; Symoens, Sofie.
Clinical Genetics. 99 (2020) 1 - p. 53-66 , 2020

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

8

A novel ADAMTS17 variant that causes Weill-Marchesani syndr..:

Karoulias, Stylianos Z. ; Beyens, Aude ; Balic, Zerina...
Matrix Biology. 88 (2020) - p. 1-18 , 2020

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

9

Slc2a10 knock-out mice deficient in ascorbic acid synthesis..:

Callewaert, Bert ; Essers, Jeroen ; Willaert, Andy...
Human Molecular Genetics. 29 (2020) 9 - p. 1476-1488 , 2020

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

10

Correction: Arterial tortuosity syndrome: 40 new families a..:

Beyens, Aude ; Albuisson, Juliette ; Boel, Annekatrien...
Genetics in Medicine. 21 (2019) 8 - p. 1894-1895 , 2019

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

11

Myhre syndrome: A first familial recurrence and broadening ..:

Meerschaut, Ilse ; Beyens, Aude ; Steyaert, Wouter...
American Journal of Medical Genetics Part A. 179 (2019) 12 - p. 2494-2499 , 2019

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

12

Defining the Clinical, Molecular and Ultrastructural Charac..:

Beyens, Aude ; Van Meensel, Kyaran ; Pottie, Lore...
Genes. 10 (2019) 7 - p. 528 , 2019

Link: https://doi.org/10.3390/..

13

Arterial tortuosity syndrome: 40 new families and literatur..:

Beyens, Aude ; Albuisson, Juliette ; Boel, Annekatrien...
Genetics in Medicine. 20 (2018) 10 - p. 1236-1245 , 2018

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

14

ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on ..:

Beyens, Aude ; Moreno‐Artero, Ester ; Bodemer, Christine...
Experimental Dermatology. 28 (2018) 10 - p. 1142-1145 , 2018

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

15

Dermatologist-like explainable AI enhances trust and confid..:

Chanda, Tirtha ; Hauser, Katja ; Hobelsberger, Sarah...
Sveučilište u Rijeci. Medicinski fakultet. Katedra za dermatovenerologiju.. , 2024

Link: https://www.unirepositor..