E-LIB Suche - Ergebnisse für: Baars Marieke

1

Expanding the genetic and phenotypic spectrum of ACTA2-rela..:

van den Bersselaar, Lisa M. ; Verhagen, Judith M.A. ; Bekkers, Jos A....
Genetics in Medicine. 26 (2024) 2 - p. 101024 , 2024

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

2

Large‐ and medium‐sized arterial aneurysms in two patients ..:

van Weelden, Wenneke ; Bleeker, Fonnet E. ; van Stijn, Diana...
American Journal of Medical Genetics Part A. , 2024

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

3

HTAD patient pathway: Strategy for diagnostic work-up of pa..:

Caruana, Maryanne ; Baars, Marieke J. ; Bashiardes, Evy...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104673 , 2023

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

4

Expanding the genetic and phenotypic spectrum of ACTA2-rela..:

van den Bersselaar, Lisa M. ; Verhagen, Judith M.A. ; Bekkers, Jos A....
Genetics in Medicine. 24 (2022) 10 - p. 2112-2122 , 2022

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

5

Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnosti..:

de Backer, Julie ; Caruana, Maryanne ; Baars, Marieke...
Cardiovascular Research. 118 (2022) Supplement_2 - p. , 2022

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

6

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Pr..:

Baars, Hubert ; Overwater, Eline ; Baars, Marieke...
Cardiogenetics. 5 (2015) 1 - p. 4842 , 2015

Link: https://doi.org/10.4081/..

7

Functional characterisation of the TSC1–TSC2 complex to ass..:

Nellist, Mark ; Sancak, Őzgür ; Goedbloed, Miriam...
BMC Medical Genetics. 9 (2008) 1 - p. , 2008

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

8

Mild phenotypes in a series of patients with Opitz GBBB syn..:

So, Joyce ; Suckow, Vanessa ; Kijas, Zofia...
American Journal of Medical Genetics Part A. 132A (2004) 1 - p. 1-7 , 2004

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

9

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural Hi..:

Demirdas, Serwet ; van den Bersselaar, Lisa M. ; Lechner, Rosan...
Circulation: Genomic and Precision Medicine. 17 (2024) 3 - p. , 2024

Link: https://doi.org/10.1161/..

10

Growth charts for Marfan syndrome in the Netherlands and an..:

Lauffer, Peter ; Pals, Gerard ; Zwinderman, Aeilko H....
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 479-489 , 2022

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

11

No prominent role for complement C1-esterase inhibitor in M..:

Hibender, Stijntje ; Li, Siyu ; Postma, Alex V...
Vascular Biology. 4 (2022) 1 - p. 40-49 , 2022

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

12

A tailored approach to informing relatives at risk of inher..:

van den Heuvel, Lieke M. ; Hoedemaekers, Yvonne M. ; Baas, Annette F....
European Journal of Human Genetics. 30 (2021) 2 - p. 203-210 , 2021

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

13

Phenotypic spectrum of TGFB3 disease‐causing variants in a ..:

Marsili, Luisa ; Overwater, Eline ; Hanna, Nadine...
Clinical Genetics. 97 (2020) 5 - p. 723-730 , 2020

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

14

Results of next-generation sequencing gene panel diagnostic..:

Overwater, Eline ; Marsili, Luisa ; Baars, Marieke J.H....
Human Mutation. 39 (2018) 9 - p. 1173-1192 , 2018

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

15

Spontaneous Intracranial Hypotension as First Symptom of An..:

Koppen, Hille ; Baars, Marieke J.H. ; van Gils, Adrianus.
Headache: The Journal of Head and Face Pain. 55 (2015) 5 - p. 711-712 , 2015

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