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Prenatal Diagnosis
|
December 5, 2009
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers
A M F van der Kevie-Kersemaekers, R F Suijkerbuijk, F C P Moll, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
July 11, 2014
Peripartum cardiomyopathy: Euro Observational Research Program
M F Hoes, I van Hagen, F Russo, et al.
Experimental Brain Research
|
November 16, 2018
Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers
J van Gaalen, R P P W M Maas, E F Ippel, et al.
The British Journal of Dermatology
|
February 3, 2009
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
S Badeloe, K Y van Spaendonck-Zwarts, M A M van Steensel, et al.
Clinical Genetics
|
August 20, 2010
Desmin-related myopathy
K Y van Spaendonck-Zwarts, L van Hessem, J D H Jongbloed, et al.
Journal of Thrombosis and Haemostasis : JTH
|
March 26, 2011
Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome
E C M Cranenburg, K Y VAN Spaendonck-Zwarts, L Bonafe, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
January 5, 2012
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D
K Y van Spaendonck-Zwarts, A J van der Kooi, M P van den Berg, et al.
International Journal of Cardiology
|
April 13, 2025
Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant
E van Drie, J D H Jongbloed, E Hoorntje, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
September 3, 2017
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
I H M van der Linde, Y L Hiemstra, R Bökenkamp, et al.
British Journal of Cancer
|
December 8, 2011
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
A C Houweling, L M Gijezen, M A Jonker, et al.
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Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Prenatal Diagnosis
|
December 5, 2009
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers
A M F van der Kevie-Kersemaekers, R F Suijkerbuijk, F C P Moll, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
July 11, 2014
Peripartum cardiomyopathy: Euro Observational Research Program
M F Hoes, I van Hagen, F Russo, et al.
Experimental Brain Research
|
November 16, 2018
Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers
J van Gaalen, R P P W M Maas, E F Ippel, et al.
The British Journal of Dermatology
|
February 3, 2009
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
S Badeloe, K Y van Spaendonck-Zwarts, M A M van Steensel, et al.
Clinical Genetics
|
August 20, 2010
Desmin-related myopathy
K Y van Spaendonck-Zwarts, L van Hessem, J D H Jongbloed, et al.
Journal of Thrombosis and Haemostasis : JTH
|
March 26, 2011
Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome
E C M Cranenburg, K Y VAN Spaendonck-Zwarts, L Bonafe, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
January 5, 2012
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D
K Y van Spaendonck-Zwarts, A J van der Kooi, M P van den Berg, et al.
International Journal of Cardiology
|
April 13, 2025
Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant
E van Drie, J D H Jongbloed, E Hoorntje, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
September 3, 2017
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
I H M van der Linde, Y L Hiemstra, R Bökenkamp, et al.
British Journal of Cancer
|
December 8, 2011
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
A C Houweling, L M Gijezen, M A Jonker, et al.
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of 1