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Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy. [electronic resource] by
- Demirdas, Serwet
- van Slegtenhorst, Marjon A
- Verdijk, Robert M
- Lee, Max
- van den Hout, Hannerieke M P
- Wessels, Marja W
- Frohn-Mulder, Ingrid M E
- Gardeitchik, Thatjana
- van der Ploeg, Ans T
- Schaaf, Gerben J
Producer: 20200603
In:
Circulation. Genomic and precision medicine vol. 12
Availability: No items available.
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6.
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Autosomal dominant inheritance of left ventricular outflow tract obstruction. [electronic resource] by
- Wessels, Marja W
- Berger, Rolf M F
- Frohn-Mulder, Ingrid M E
- Roos-Hesselink, Jolien W
- Hoogeboom, Jeanette J M
- Mancini, Grazia S
- Bartelings, Margot M
- Krijger, Ronald de
- Wladimiroff, Jury W
- Niermeijer, Martinus F
- Grossfeld, Paul
- Willems, Patrick J
Producer: 20050627
In:
American journal of medical genetics. Part A vol. 134A
Availability: No items available.
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7.
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Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome. [electronic resource] by
- Verhagen, Judith M A
- van den Born, Myrthe
- Kurul, Serife
- Asimaki, Angeliki
- van de Laar, Ingrid M B H
- Frohn-Mulder, Ingrid M E
- Kammeraad, Janneke A E
- Yap, Sing C
- Bartelings, Margot M
- van Slegtenhorst, Marjon A
- von der Thüsen, Jan H
- Wessels, Marja W
Producer: 20191011
In:
Circulation. Genomic and precision medicine vol. 11
Availability: No items available.
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8.
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Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. [electronic resource] by
- van der Werf, Christian
- Nederend, Ineke
- Hofman, Nynke
- van Geloven, Nan
- Ebink, Corné
- Frohn-Mulder, Ingrid M E
- Alings, A Marco W
- Bosker, Hans A
- Bracke, Frank A
- van den Heuvel, Freek
- Waalewijn, Reinier A
- Bikker, Hennie
- van Tintelen, J Peter
- Bhuiyan, Zahurul A
- van den Berg, Maarten P
- Wilde, Arthur A M
Producer: 20121026
In:
Circulation. Arrhythmia and electrophysiology vol. 5
Availability: No items available.
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9.
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Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. [electronic resource] by
- van der Linde, Denise
- van de Laar, Ingrid M B H
- Bertoli-Avella, Aida M
- Oldenburg, Rogier A
- Bekkers, Jos A
- Mattace-Raso, Francesco U S
- van den Meiracker, Anton H
- Moelker, Adriaan
- van Kooten, Fop
- Frohn-Mulder, Ingrid M E
- Timmermans, Janneke
- Moltzer, Els
- Cobben, Jan M
- van Laer, Lut
- Loeys, Bart
- De Backer, Julie
- Coucke, Paul J
- De Paepe, Anne
- Hilhorst-Hofstee, Yvonne
- Wessels, Marja W
- Roos-Hesselink, Jolien W
Producer: 20121009
In:
Journal of the American College of Cardiology vol. 60
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10.
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NPHP4 variants are associated with pleiotropic heart malformations. [electronic resource] by
- French, Vanessa M
- van de Laar, Ingrid M B H
- Wessels, Marja W
- Rohe, Christan
- Roos-Hesselink, Jolien W
- Wang, Guangliang
- Frohn-Mulder, Ingrid M E
- Severijnen, Lies-Anne
- de Graaf, Bianca M
- Schot, Rachel
- Breedveld, Guido
- Mientjes, Edwin
- van Tienhoven, Marianne
- Jadot, Elodie
- Jiang, Zhengxin
- Verkerk, Annemieke
- Swagemakers, Sigrid
- Venselaar, Hanka
- Rahimi, Zohreh
- Najmabadi, Hossein
- Meijers-Heijboer, Hanne
- de Graaff, Esther
- Helbing, Wim A
- Willemsen, Rob
- Devriendt, Koen
- Belmont, John W
- Oostra, Ben A
- Amack, Jeffrey D
- Bertoli-Avella, Aida M
Producer: 20120813
In:
Circulation research vol. 110
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11.
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. [electronic resource] by
- van de Laar, Ingrid M B H
- Oldenburg, Rogier A
- Pals, Gerard
- Roos-Hesselink, Jolien W
- de Graaf, Bianca M
- Verhagen, Judith M A
- Hoedemaekers, Yvonne M
- Willemsen, Rob
- Severijnen, Lies-Anne
- Venselaar, Hanka
- Vriend, Gert
- Pattynama, Peter M
- Collée, Margriet
- Majoor-Krakauer, Danielle
- Poldermans, Don
- Frohn-Mulder, Ingrid M E
- Micha, Dimitra
- Timmermans, Janneke
- Hilhorst-Hofstee, Yvonne
- Bierma-Zeinstra, Sita M
- Willems, Patrick J
- Kros, Johan M
- Oei, Edwin H G
- Oostra, Ben A
- Wessels, Marja W
- Bertoli-Avella, Aida M
Producer: 20110331
In:
Nature genetics vol. 43
Availability: No items available.
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12.
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Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia. [electronic resource] by
- Lieve, Krystien V V
- Verhagen, Judith M A
- Wei, Jinhong
- Bos, J Martijn
- van der Werf, Christian
- Rosés I Noguer, Ferran
- Mancini, Grazia M S
- Guo, Wenting
- Wang, Ruiwu
- van den Heuvel, Freek
- Frohn-Mulder, Ingrid M E
- Shimizu, Wataru
- Nogami, Akihiko
- Horigome, Hitoshi
- Roberts, Jason D
- Leenhardt, Antoine
- Crijns, Harry J G
- Blank, Andreas C
- Aiba, Takeshi
- Wiesfeld, Ans C P
- Blom, Nico A
- Sumitomo, Naokata
- Till, Jan
- Ackerman, Michael J
- Chen, S R Wayne
- van de Laar, Ingrid M B H
- Wilde, Arthur A M
Producer: 20201002
In:
Heart rhythm vol. 16
Availability: No items available.
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13.
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. [electronic resource] by
- van de Laar, Ingrid M B H
- van der Linde, Denise
- Oei, Edwin H G
- Bos, Pieter K
- Bessems, Johannes H
- Bierma-Zeinstra, Sita M
- van Meer, Belle L
- Pals, Gerard
- Oldenburg, Rogier A
- Bekkers, Jos A
- Moelker, Adriaan
- de Graaf, Bianca M
- Matyas, Gabor
- Frohn-Mulder, Ingrid M E
- Timmermans, Janneke
- Hilhorst-Hofstee, Yvonne
- Cobben, Jan M
- Bruggenwirth, Hennie T
- van Laer, Lut
- Loeys, Bart
- De Backer, Julie
- Coucke, Paul J
- Dietz, Harry C
- Willems, Patrick J
- Oostra, Ben A
- De Paepe, Anne
- Roos-Hesselink, Jolien W
- Bertoli-Avella, Aida M
- Wessels, Marja W
Producer: 20120410
In:
Journal of medical genetics vol. 49
Availability: No items available.
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14.
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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. [electronic resource] by
- Almomani, Rowida
- Verhagen, Judith M A
- Herkert, Johanna C
- Brosens, Erwin
- van Spaendonck-Zwarts, Karin Y
- Asimaki, Angeliki
- van der Zwaag, Paul A
- Frohn-Mulder, Ingrid M E
- Bertoli-Avella, Aida M
- Boven, Ludolf G
- van Slegtenhorst, Marjon A
- van der Smagt, Jasper J
- van IJcken, Wilfred F J
- Timmer, Bert
- van Stuijvenberg, Margriet
- Verdijk, Rob M
- Saffitz, Jeffrey E
- du Plessis, Frederik A
- Michels, Michelle
- Hofstra, Robert M W
- Sinke, Richard J
- van Tintelen, J Peter
- Wessels, Marja W
- Jongbloed, Jan D H
- van de Laar, Ingrid M B H
Producer: 20160607
In:
Journal of the American College of Cardiology vol. 67
Availability: No items available.
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