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Showing results (111-120 of 127) with videos related to

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Human Genetics|August 13, 2015
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband SyndromesNuria C Bramswig, C W Ockeloen, J C Czeschik, et al.
Parkinsonism & Related Disorders|October 26, 2017
Non-motor symptoms and quality of life in dopa-responsive dystonia patientsE R Timmers, A Kuiper, M Smit, 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.
Journal of Medical Genetics|July 7, 2009
The unfolding clinical spectrum of POLG mutationsM J Blok, B J van den Bosch, E Jongen, et al.
American Journal of Medical Genetics|January 20, 1997
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation familyM G Ausems, E Bakker, R Berger, et al.
Human Heredity|July 1, 1996
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysisC J van der Sijs-Bos, C M Diepstraten, J A Juyn, et al.
American Journal of Human Genetics|October 31, 2000
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesisL W Klomp, T J de Koning, H E Malingré, et al.
Biochemical and Biophysical Research Communications|May 16, 1998
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiencyT J de Koning, L Dorland, O P van Diggelen, 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.
Neurology|August 2, 2008
Prognostic factors after a first attack of inflammatory CNS demyelination in childrenR F Neuteboom, M Boon, C E Catsman Berrevoets, et al.
Pageof 13

Showing results (111-120 of 127) with videos related to

Sort By:
Pageof 13
Human Genetics|August 13, 2015
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband SyndromesNuria C Bramswig, C W Ockeloen, J C Czeschik, et al.
Parkinsonism & Related Disorders|October 26, 2017
Non-motor symptoms and quality of life in dopa-responsive dystonia patientsE R Timmers, A Kuiper, M Smit, 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.
Journal of Medical Genetics|July 7, 2009
The unfolding clinical spectrum of POLG mutationsM J Blok, B J van den Bosch, E Jongen, et al.
American Journal of Medical Genetics|January 20, 1997
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation familyM G Ausems, E Bakker, R Berger, et al.
Human Heredity|July 1, 1996
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysisC J van der Sijs-Bos, C M Diepstraten, J A Juyn, et al.
American Journal of Human Genetics|October 31, 2000
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesisL W Klomp, T J de Koning, H E Malingré, et al.
Biochemical and Biophysical Research Communications|May 16, 1998
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiencyT J de Koning, L Dorland, O P van Diggelen, 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.
Neurology|August 2, 2008
Prognostic factors after a first attack of inflammatory CNS demyelination in childrenR F Neuteboom, M Boon, C E Catsman Berrevoets, et al.
Pageof 13