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van Spaendonck‐Zwarts, Karin Y.
93  Ergebnisse:
Personensuche X
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1

KBTBD13is a novel cardiomyopathy gene:

de Winter, Josine M. ; Bouman, Karlijn ; Strom, Joshua...
Human Mutation.  43 (2022)  12 - p. 1860-1865 , 2022
Link: https://doi.org/10.1002/..
 
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2

Pseudodominant inheritance pattern in a family with CMT2 ca..:

van Paassen, Barbara W. ; Bronk, Marieke ; Verhamme, Camiel...
Journal of the Peripheral Nervous System.  22 (2017)  4 - p. 464-467 , 2017
Link: https://doi.org/10.1111/..
 
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3

The first titin (c.59926 + 1G > A) founder mutation associa..:

Hoorntje, Edgar T. ; van Spaendonck‐Zwarts, Karin Y. ; te Rijdt, Wouter P....
European Journal of Heart Failure.  20 (2017)  4 - p. 803-806 , 2017
Link: https://doi.org/10.1002/..
 
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4

Truncating titin mutations are associated with a mild and t..:

Jansweijer, Joeri A. ; Nieuwhof, Karin ; Russo, Francesco...
European Journal of Heart Failure.  19 (2016)  4 - p. 512-521 , 2016
Link: https://doi.org/10.1002/..
 
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5

Genetic analysis in 418 index patients with idiopathic dila..:

van Spaendonck‐Zwarts, Karin Y. ; van Rijsingen, Ingrid A.W. ; van den Berg, Maarten P....
European Journal of Heart Failure.  15 (2013)  6 - p. 628-636 , 2013
Link: https://doi.org/10.1093/..
 
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6

Phospholamban R14del mutation in patients diagnosed with di..:

van der Zwaag, Paul A. ; van Rijsingen, Ingrid A.W. ; Asimaki, Angeliki...
European Journal of Heart Failure.  14 (2012)  11 - p. 1199-1207 , 2012
Link: https://doi.org/10.1093/..
 
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7

Systematic review of pregnancy in women with inherited card..:

Krul, Sébastien P.J. ; van der Smagt, Jasper J. ; van den Berg, Maarten P....
European Journal of Heart Failure.  13 (2011)  6 - p. 584-594 , 2011
Link: https://doi.org/10.1093/..
 
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8

Familial dilated cardiomyopathy: another risk factor for an..:

van den Berg, Maarten P. ; van Spaendonck‐Zwarts, Karin Y. ; van Veldhuisen, Dirk J....
European Journal of Heart Failure.  12 (2010)  12 - p. 1297-1299 , 2010
Link: https://doi.org/10.1093/..
 
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9

Lamin A/C‐related cardiac disease and pregnancy:

van Tintelen, J. Peter ; van Spaendonck‐Zwarts, Karin Y. ; van den Berg, Maarten P.
European Journal of Heart Failure.  12 (2010)  6 - p. 532-534 , 2010
Link: https://doi.org/10.1093/..
 
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10

DNA Analysis in Inherited Cardiomyopathies: Current Status ..:

VAN SPAENDONCK‐ZWARTS, KARIN Y. ; VAN DEN BERG, MAARTEN P. ; VAN TINTELEN, J. PETER
Pacing and Clinical Electrophysiology.  31 (2008)  s1 - p. , 2008
Link: https://doi.org/10.1111/..
 
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11

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing h..:

Marsili, Luisa ; van Lint, Freyja H. M. ; Russo, Francesco...
Netherlands Heart Journal.  31 (2023)  7-8 - p. 300-307 , 2023
Link: https://doi.org/10.1007/..
 
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12

SMARCA4-associated schwannomatosis:

Chan-Pak-Choon, Fiona ; Roca, Carla ; Chong, Anne-Sophie...
Acta Neuropathologica.  145 (2023)  4 - p. 505-507 , 2023
Link: https://doi.org/10.1007/..
 
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13

Biallelic variants in the calpain regulatory subunit CAPNS1..:

Postma, Alex V. ; Rapp, Christina K. ; Knoflach, Katrin...
Genetics in Medicine Open.  1 (2023)  1 - p. 100811 , 2023
Link: https://doi.org/10.1016/..
 
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14

Pathogenic variants in three families with distal muscle in..:

Weterman, Marian A.J. ; Bronk, Marieke ; Jongejan, Aldo...
Neuromuscular Disorders.  33 (2023)  1 - p. 58-64 , 2023
Link: https://doi.org/10.1016/..
 
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15

A translation re-initiation variant in KLHL24 also causes e..:

Vermeer, Mathilde C.S.C. ; Al-Shinnag, Mohammad ; Silljé, Herman H.W....
British Journal of Dermatology.  187 (2022)  6 - p. 1045-1048 , 2022
Link: https://doi.org/10.1111/..
 
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