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Kempers, Marlies
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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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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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/..
 
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6

Surveillance and monitoring in vascular Ehlers-Danlos syndr..:

van de Laar, Ingrid M.B.H. ; Baas, Annette F. ; De Backer, Julie...
European Journal of Medical Genetics.  65 (2022)  9 - p. 104557 , 2022
Link: https://doi.org/10.1016/..
 
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7

Phenotype of COL3A1/COL5A2 deletion patients:

Kempers, Marlies JE. ; Wessels, Marja ; Van Berendoncks, An...
European Journal of Medical Genetics.  65 (2022)  10 - p. 104593 , 2022
Link: https://doi.org/10.1016/..
 
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8

Cardiac abnormalities in girls with Turner syndrome: ECG ab..:

Noordman, Iris D. ; Fejzic, Zina ; Bos, Melanie...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2399-2408 , 2021
Link: https://doi.org/10.1002/..
 
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9

Challenges in diagnosis and management of neonatal hyperpar..:

Sabir, Samar ; Kempers, Marlies ; Lugtenberg, Dorien...
Pan African Medical Journal.  40 (2021)  - p. , 2021
Link: https://doi.org/10.11604..
 
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10

Novel LOX Variants in Five Families with Aortic/Arterial An..:

Van Gucht, Ilse ; Krebsova, Alice ; Diness, Birgitte Rode...
International Journal of Molecular Sciences.  22 (2021)  13 - p. 7111 , 2021
Link: https://doi.org/10.3390/..
 
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11

Linkage-specific deubiquitylation by OTUD5 defines an embry..:

Beck, David B. ; Basar, Mohammed A. ; Asmar, Anthony J....
Science Advances.  7 (2021)  4 - p. , 2021
Link: https://doi.org/10.1126/..
 
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12

Two novel presentations of KCNMA1‐related pathology––Expand..:

Rodrigues Bento, Jotte ; Feben, Candice ; Kempers, Marlies...
Molecular Genetics & Genomic Medicine.  9 (2021)  10 - p. , 2021
Link: https://doi.org/10.1002/..
 
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13

No QTc Prolongation in Girls and Women with Turner Syndrome:

Noordman, Iris D ; Duijnhouwer, Anthonie L ; Coert, Misty...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  11 - p. e4148-e4156 , 2020
Link: https://doi.org/10.1210/..
 
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14

A mutation update for theFLNCgene in myopathies and cardiom..:

Verdonschot, Job A. J. ; Vanhoutte, Els K. ; Claes, Godelieve R. F....
Human Mutation.  41 (2020)  6 - p. 1091-1111 , 2020
Link: https://doi.org/10.1002/..
 
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15

Under-reported aspects of diagnosis and treatment addressed..:

Bever, Yolande van ; Brüggenwirth, Hennie T ; Wolffenbuttel, Katja P...
Journal of Medical Genetics.  57 (2020)  9 - p. 581-589 , 2020
Link: https://doi.org/10.1136/..
 
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