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Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death. [electronic resource] by
- Lahrouchi, Najim
- Lodder, Elisabeth M
- Mansouri, Maria
- Tadros, Rafik
- Zniber, Layla
- Adadi, Najlae
- Clur, Sally-Ann B
- van Spaendonck-Zwarts, Karin Y
- Postma, Alex V
- Sefiani, Abdelaziz
- Ratbi, Ilham
- Bezzina, Connie R
Producer: 20170912
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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14.
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Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. [electronic resource] by
- Sikkema-Raddatz, Birgit
- Johansson, Lennart F
- de Boer, Eddy N
- Almomani, Rowida
- Boven, Ludolf G
- van den Berg, Maarten P
- van Spaendonck-Zwarts, Karin Y
- van Tintelen, J Peter
- Sijmons, Rolf H
- Jongbloed, Jan D H
- Sinke, Richard J
Producer: 20140127
In:
Human mutation vol. 34
Availability: No items available.
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15.
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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. [electronic resource] by
- Segarra, Nuria Garcia
- Ballhausen, Diana
- Crawford, Heather
- Perreau, Matthieu
- Campos-Xavier, Belinda
- van Spaendonck-Zwarts, Karin
- Vermeer, Cees
- Russo, Michel
- Zambelli, Pierre-Yves
- Stevenson, Brian
- Royer-Bertrand, Beryl
- Rivolta, Carlo
- Candotti, Fabio
- Unger, Sheila
- Munier, Francis L
- Superti-Furga, Andrea
- Bonafé, Luisa
Producer: 20161017
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
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16.
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Missense mutations to the TSC1 gene cause tuberous sclerosis complex. [electronic resource] by
- Nellist, Mark
- van den Heuvel, Diana
- Schluep, Diane
- Exalto, Carla
- Goedbloed, Miriam
- Maat-Kievit, Anneke
- van Essen, Ton
- van Spaendonck-Zwarts, Karin
- Jansen, Floor
- Helderman, Paula
- Bartalini, Gabriella
- Vierimaa, Outi
- Penttinen, Maila
- van den Ende, Jenneke
- van den Ouweland, Ans
- Halley, Dicky
Producer: 20090423
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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17.
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Myofilament Remodeling and Function Is More Impaired in Peripartum Cardiomyopathy Compared with Dilated Cardiomyopathy and Ischemic Heart Disease. [electronic resource] by
- Bollen, Ilse A E
- Ehler, Elisabeth
- Fleischanderl, Karin
- Bouwman, Floor
- Kempers, Lanette
- Ricke-Hoch, Melanie
- Hilfiker-Kleiner, Denise
- Dos Remedios, Cristobal G
- Krüger, Martina
- Vink, Aryan
- Asselbergs, Folkert W
- van Spaendonck-Zwarts, Karin Y
- Pinto, Yigal M
- Kuster, Diederik W D
- van der Velden, Jolanda
Producer: 20171129
In:
The American journal of pathology vol. 187
Availability: No items available.
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18.
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The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. [electronic resource] by
- Christiaans, Imke
- Birnie, Erwin
- van Langen, Irene M
- van Spaendonck-Zwarts, Karin Y
- van Tintelen, J Peter
- van den Berg, Maarten P
- Atsma, Douwe E
- Helderman-van den Enden, Apollonia T J M
- Pinto, Yigal M
- Hermans-van Ast, J F
- Bonsel, Gouke J
- Wilde, Arthur A M
Producer: 20100930
In:
European heart journal vol. 31
Availability: No items available.
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19.
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RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling. [electronic resource] by
- van den Hoogenhof, Maarten M G
- Beqqali, Abdelaziz
- Amin, Ahmad S
- van der Made, Ingeborg
- Aufiero, Simona
- Khan, Mohsin A F
- Schumacher, Cees A
- Jansweijer, Joeri A
- van Spaendonck-Zwarts, Karin Y
- Remme, Carol Ann
- Backs, Johannes
- Verkerk, Arie O
- Baartscheer, Antonius
- Pinto, Yigal M
- Creemers, Esther E
Producer: 20191004
In:
Circulation vol. 138
Availability: No items available.
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20.
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Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy. [electronic resource] by
- Hodes, Anke R
- Tichnell, Crystal
- Te Riele, Anneline S J M
- Murray, Brittney
- Groeneweg, Judith A
- Sawant, Abhishek C
- Russell, Stuart D
- van Spaendonck-Zwarts, Karin Y
- van den Berg, Maarten P
- Wilde, Arthur A
- Tandri, Harikrishna
- Judge, Daniel P
- Hauer, Richard N W
- Calkins, Hugh
- van Tintelen, J Peter
- James, Cynthia A
Producer: 20170717
In:
Heart (British Cardiac Society) vol. 102
Availability: No items available.
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