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Martijn H Breuning

Showing results (61-70 of 112) with videos related to

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Human Genetics|May 19, 2006
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceMarjolein Kriek, Karoly Szuhai, Sarina G Kant, et al.
Archives of Neurology|May 21, 2003
Incipient CADASILSaskia A J Lesnik Oberstein, Rivka van den Boom, Huub A M Middelkoop, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The NetherlandsStephanie S Weinreich, Astrid Bosma, Lidewij Henneman, et al.
Blood|June 8, 2007
Effect of the new HJV-L165X mutation on penetrance of HFEBoukje A C van Dijk, Erwin H J M Kemna, Harold Tjalsma, et al.
The Journal of Clinical Endocrinology and Metabolism|November 12, 2010
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosisSarina G Kant, Hetty J van der Kamp, Marjolein Kriek, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|September 22, 2010
Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertensionSabrine Hassane, Nanna Claij, Martine Jodar, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
LRP5 variants may contribute to ADPKDWybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 24, 2012
Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney diseaseWendy E Boertien, Esther Meijer, Debbie Zittema, et al.
American Journal of Medical Genetics. Part A|November 6, 2004
Three new families with arterial tortuosity syndromeMarja W Wessels, Coriene E Catsman-Berrevoets, Grazia M S Mancini, et al.
European Journal of Medical Genetics|June 14, 2011
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocationAntoinet C J Gijsbers, Johannes G Dauwerse, Cathy A J Bosch, et al.
Pageof 12

Showing results (61-70 of 112) with videos related to

Sort By:
Pageof 12
Human Genetics|May 19, 2006
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceMarjolein Kriek, Karoly Szuhai, Sarina G Kant, et al.
Archives of Neurology|May 21, 2003
Incipient CADASILSaskia A J Lesnik Oberstein, Rivka van den Boom, Huub A M Middelkoop, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The NetherlandsStephanie S Weinreich, Astrid Bosma, Lidewij Henneman, et al.
Blood|June 8, 2007
Effect of the new HJV-L165X mutation on penetrance of HFEBoukje A C van Dijk, Erwin H J M Kemna, Harold Tjalsma, et al.
The Journal of Clinical Endocrinology and Metabolism|November 12, 2010
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosisSarina G Kant, Hetty J van der Kamp, Marjolein Kriek, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|September 22, 2010
Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertensionSabrine Hassane, Nanna Claij, Martine Jodar, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
LRP5 variants may contribute to ADPKDWybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 24, 2012
Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney diseaseWendy E Boertien, Esther Meijer, Debbie Zittema, et al.
American Journal of Medical Genetics. Part A|November 6, 2004
Three new families with arterial tortuosity syndromeMarja W Wessels, Coriene E Catsman-Berrevoets, Grazia M S Mancini, et al.
European Journal of Medical Genetics|June 14, 2011
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocationAntoinet C J Gijsbers, Johannes G Dauwerse, Cathy A J Bosch, et al.
Pageof 12