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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. [electronic resource] by
- Wessels, Marja W
- Herkert, Johanna C
- Frohn-Mulder, Ingrid M
- Dalinghaus, Michiel
- van den Wijngaard, Arthur
- de Krijger, Ronald R
- Michels, Michelle
- de Coo, Irenaeus Fm
- Hoedemaekers, Yvonne M
- Dooijes, Dennis
Producer: 20160401
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. [electronic resource] by
- Hoedemaekers, Yvonne M
- Caliskan, Kadir
- Michels, Michelle
- Frohn-Mulder, Ingrid
- van der Smagt, Jasper J
- Phefferkorn, Judith E
- Wessels, Marja W
- ten Cate, Folkert J
- Sijbrands, Eric J G
- Dooijes, Dennis
- Majoor-Krakauer, Danielle F
Producer: 20100920
In:
Circulation. Cardiovascular genetics vol. 3
Availability: No items available.
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10.
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Three new families with arterial tortuosity syndrome. [electronic resource] by
- Wessels, Marja W
- Catsman-Berrevoets, Coriene E
- Mancini, Grazia M S
- Breuning, Martijn H
- Hoogeboom, Jeanette J M
- Stroink, Hans
- Frohn-Mulder, Ingrid
- Coucke, Paul J
- Paepe, Anne De
- Niermeijer, Martinus F
- Willems, Patrick J
Producer: 20050505
In:
American journal of medical genetics. Part A vol. 131
Availability: No items available.
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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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First locus for primary pulmonary vein stenosis maps to chromosome 2q. [electronic resource] by
- van de Laar, Ingrid
- Wessels, Marja
- Frohn-Mulder, Ingrid
- Dalinghaus, Michiel
- de Graaf, Bianca
- van Tienhoven, Marianne
- van der Moer, Paul
- Husen-Ebbinge, Margreet
- Lequin, Maarten
- Dooijes, Dennis
- de Krijger, Ronald
- Oostra, Ben A
- Bertoli-Avella, Aida M
Producer: 20101202
In:
European heart journal vol. 30
Availability: No items available.
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13.
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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
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14.
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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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ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. [electronic resource] by
- Massadeh, Salam
- Alhashem, Amal
- van de Laar, Ingrid M B H
- Alhabshan, Fahad
- Ordonez, Natalia
- Alawbathani, Salem
- Khan, Suliman
- Kabbani, Mohamed S
- Chaikhouni, Farah
- Sheereen, Atia
- Almohammed, Iman
- Alghamdi, Bader
- Frohn-Mulder, Ingrid
- Ahmad, Salim
- Beetz, Christian
- Bauer, Peter
- Wessels, Marja W
- Alaamery, Manal
- Bertoli-Avella, Aida M
Producer: 20210706
In:
Clinical genetics vol. 98
Availability: No items available.
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16.
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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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17.
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A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. [electronic resource] by
- Wessels, Marja W
- De Graaf, Bianca M
- Cohen-Overbeek, Titia E
- Spitaels, Silja E
- de Groot-de Laat, Lotte E
- Ten Cate, Folkert J
- Frohn-Mulder, Ingrid F M
- de Krijger, Ronald
- Bartelings, Margot M
- Essed, Nienke
- Wladimiroff, Jury W
- Niermeijer, Martinus F
- Heutink, Peter
- Oostra, Ben A
- Dooijes, Dennis
- Bertoli-Avella, Aida M
- Willems, Patrick J
Producer: 20080430
In:
Human genetics vol. 122
Availability: No items available.
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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
Availability: No items available.
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19.
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Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. [electronic resource] by
- Kerstjens-Frederikse, Wilhelmina S
- van de Laar, Ingrid M B H
- Vos, Yvonne J
- Verhagen, Judith M A
- Berger, Rolf M F
- Lichtenbelt, Klaske D
- Klein Wassink-Ruiter, Jolien S
- van der Zwaag, Paul A
- du Marchie Sarvaas, Gideon J
- Bergman, Klasien A
- Bilardo, Catia M
- Roos-Hesselink, Jolien W
- Janssen, Johan H P
- Frohn-Mulder, Ingrid M
- van Spaendonck-Zwarts, Karin Y
- van Melle, Joost P
- Hofstra, Robert M W
- Wessels, M W
Producer: 20171211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
Availability: No items available.
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20.
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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
Availability: No items available.
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