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Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. [electronic resource] by
- Postma, A V
- Denjoy, I
- Kamblock, J
- Alders, M
- Lupoglazoff, J-M
- Vaksmann, G
- Dubosq-Bidot, L
- Sebillon, P
- Mannens, M M A M
- Guicheney, P
- Wilde, A A M
Producer: 20060717
In:
Journal of medical genetics vol. 42
Availability: No items available.
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8.
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Oxytocin receptor gene methylation in male and female PTSD patients and trauma-exposed controls. [electronic resource] by
- Nawijn, L
- Krzyzewska, I M
- van Zuiden, M
- Henneman, P
- Koch, S B J
- Mul, A N
- Frijling, J L
- Veltman, D J
- Mannens, M M A M
- Olff, M
Producer: 20190805
In:
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology vol. 29
Availability: No items available.
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A monozygotic twin pair with highly discordant Gaucher phenotypes. [electronic resource] by
- Biegstraaten, M
- van Schaik, I N
- Aerts, J M F G
- Langeveld, M
- Mannens, M M A M
- Bour, L J
- Sidransky, E
- Tayebi, N
- Fitzgibbon, E
- Hollak, C E M
Producer: 20110608
In:
Blood cells, molecules & diseases vol. 46
Availability: No items available.
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Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics. [electronic resource] by
- Krzyzewska, I M
- Alders, M
- Maas, S M
- Bliek, J
- Venema, A
- Henneman, P
- Rezwan, F I
- Lip, K V D
- Mul, A N
- Mackay, D J G
- Mannens, M M A M
Producer: 20200121
In:
Clinical epigenetics vol. 11
Availability: No items available.
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Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. [electronic resource] by
- Christiaans, I
- Nannenberg, E A
- Dooijes, D
- Jongbloed, R J E
- Michels, M
- Postema, P G
- Majoor-Krakauer, D
- van den Wijngaard, A
- Mannens, M M A M
- van Tintelen, J P
- van Langen, I M
- Wilde, A A M
Producer: 20110714
In:
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation vol. 18
Availability: No items available.
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Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. [electronic resource] by
- Postma, A V
- Alders, M
- Sylva, M
- Bilardo, C M
- Pajkrt, E
- van Rijn, R R
- Schulte-Merker, S
- Bulk, S
- Stefanovic, S
- Ilgun, A
- Barnett, P
- Mannens, M M A M
- Moorman, A F M
- Oostra, R J
- van Maarle, M C
Producer: 20140908
In:
Journal of medical genetics vol. 51
Availability: No items available.
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14.
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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. [electronic resource] by
- van den Wijngaard, A
- Volders, P
- Van Tintelen, J P
- Jongbloed, J D H
- van den Berg, M P
- Lekanne Deprez, R H
- Mannens, M M A M
- Hofmann, N
- Slegtenhorst, M
- Dooijes, D
- Michels, M
- Arens, Y
- Jongbloed, R
- Smeets, B J M
Producer: 20111110
In:
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation vol. 19
Availability: No items available.
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15.
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A genome-wide DNA methylation signature for SETD1B-related syndrome. [electronic resource] by
- Krzyzewska, I M
- Maas, S M
- Henneman, P
- Lip, K V D
- Venema, A
- Baranano, K
- Chassevent, A
- Aref-Eshghi, E
- van Essen, A J
- Fukuda, T
- Ikeda, H
- Jacquemont, M
- Kim, H-G
- Labalme, A
- Lewis, S M E
- Lesca, G
- Madrigal, I
- Mahida, S
- Matsumoto, N
- Rabionet, R
- Rajcan-Separovic, E
- Qiao, Y
- Sadikovic, B
- Saitsu, H
- Sweetser, D A
- Alders, M
- Mannens, M M A M
Producer: 20200727
In:
Clinical epigenetics vol. 11
Availability: No items available.
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16.
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The IGSF1 deficiency syndrome: characteristics of male and female patients. [electronic resource] by
- Joustra, S D
- Schoenmakers, N
- Persani, L
- Campi, I
- Bonomi, M
- Radetti, G
- Beck-Peccoz, P
- Zhu, H
- Davis, T M E
- Sun, Y
- Corssmit, E P
- Appelman-Dijkstra, N M
- Heinen, C A
- Pereira, A M
- Varewijck, A J
- Janssen, J A M J L
- Endert, E
- Hennekam, R C
- Lombardi, M P
- Mannens, M M A M
- Bak, B
- Bernard, D J
- Breuning, M H
- Chatterjee, K
- Dattani, M T
- Oostdijk, W
- Biermasz, N R
- Wit, J M
- van Trotsenburg, A S P
Producer: 20140414
In:
The Journal of clinical endocrinology and metabolism vol. 98
Availability: No items available.
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