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H R Waterham

Showing results (91-100 of 97) with videos related to

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Neurology|February 12, 2004
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survivalP G Barth, C B L M Majoie, J Gootjes, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.
Nature Genetics|June 16, 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, W Kuis, M Duran, et al.
Journal of Inherited Metabolic Disease|January 12, 2008
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiencyT G J Derks, T S Boer, A van Assen, et al.
Clinical Immunology (Orlando, Fla.)|August 6, 2019
A dominant activating RAC2 variant associated with immunodeficiency and pulmonary diseaseB M Smits, P H C Lelieveld, F A Ververs, et al.
Heredity|July 30, 2009
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutationsJ M Flanagan, G McMahon, S H Brendan Chia, et al.
JIMD Reports|December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseasesI J Hieltjes, J H van der Lee, M C Groenendijk, et al.
Pageof 10

Showing results (91-100 of 97) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 97 results.
Neurology|February 12, 2004
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survivalP G Barth, C B L M Majoie, J Gootjes, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.
Nature Genetics|June 16, 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, W Kuis, M Duran, et al.
Journal of Inherited Metabolic Disease|January 12, 2008
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiencyT G J Derks, T S Boer, A van Assen, et al.
Clinical Immunology (Orlando, Fla.)|August 6, 2019
A dominant activating RAC2 variant associated with immunodeficiency and pulmonary diseaseB M Smits, P H C Lelieveld, F A Ververs, et al.
Heredity|July 30, 2009
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutationsJ M Flanagan, G McMahon, S H Brendan Chia, et al.
JIMD Reports|December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseasesI J Hieltjes, J H van der Lee, M C Groenendijk, et al.
Pageof 10