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J K Ploos van Amstel

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Nederlands Tijdschrift Voor Geneeskunde|December 1, 1999
[Genetics in medical practice after 2000]J K Ploos van Amstel, T W van Haeften, J C Giltay
Voprosy Meditsinskoi Khimii|November 5, 1999
[Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease]E M Beĭer, S V Kopishinskaia, J K Ploos van Amstel, et al.
Blood|September 1, 1988
The putative factor IX gene promoter in hemophilia B LeydenP H Reitsma, R M Bertina, J K Ploos van Amstel, et al.
Journal of Medical Genetics|June 1, 1995
H714Q mutation in Wilson disease is associated with late, neurological presentationR H Houwen, J Juyn, T U Hoogenraad, et al.
Lancet (London, England)|July 30, 1994
Prenatal diagnosis of type I hereditary tyrosinaemiaJ K Ploos van Amstel, R P Jansen, M Verjaal, et al.
Journal of Inherited Metabolic Disease|October 14, 2000
Isolated and contiguous glycerol kinase gene disorders: a reviewD R Sjarif, J K Ploos van Amstel, M Duran, et al.
Human Molecular Genetics|March 1, 1994
Six novel mutations in the alpha-galactosidase A gene in families with Fabry diseaseJ K Ploos van Amstel, R P Jansen, J G de Jong, et al.
Journal of Medical Genetics|August 1, 1996
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A geneI Redonnet-Vernhet, J K Ploos van Amstel, R P Jansen, et al.
Thrombosis and Haemostasis|December 18, 1987
Two genes homologous with human protein S cDNA are located on chromosome 3J K Ploos van Amstel, A L van der Zanden, E Bakker, et al.
Ideggyogyaszati Szemle|February 21, 2012
Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patientsAranka László, László Török, Sarolta Raffai, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Nederlands Tijdschrift Voor Geneeskunde|December 1, 1999
[Genetics in medical practice after 2000]J K Ploos van Amstel, T W van Haeften, J C Giltay
Voprosy Meditsinskoi Khimii|November 5, 1999
[Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease]E M Beĭer, S V Kopishinskaia, J K Ploos van Amstel, et al.
Blood|September 1, 1988
The putative factor IX gene promoter in hemophilia B LeydenP H Reitsma, R M Bertina, J K Ploos van Amstel, et al.
Journal of Medical Genetics|June 1, 1995
H714Q mutation in Wilson disease is associated with late, neurological presentationR H Houwen, J Juyn, T U Hoogenraad, et al.
Lancet (London, England)|July 30, 1994
Prenatal diagnosis of type I hereditary tyrosinaemiaJ K Ploos van Amstel, R P Jansen, M Verjaal, et al.
Journal of Inherited Metabolic Disease|October 14, 2000
Isolated and contiguous glycerol kinase gene disorders: a reviewD R Sjarif, J K Ploos van Amstel, M Duran, et al.
Human Molecular Genetics|March 1, 1994
Six novel mutations in the alpha-galactosidase A gene in families with Fabry diseaseJ K Ploos van Amstel, R P Jansen, J G de Jong, et al.
Journal of Medical Genetics|August 1, 1996
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A geneI Redonnet-Vernhet, J K Ploos van Amstel, R P Jansen, et al.
Thrombosis and Haemostasis|December 18, 1987
Two genes homologous with human protein S cDNA are located on chromosome 3J K Ploos van Amstel, A L van der Zanden, E Bakker, et al.
Ideggyogyaszati Szemle|February 21, 2012
Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patientsAranka László, László Török, Sarolta Raffai, et al.
Pageof 3