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A Wevers

Showing results (331-340 of 543) with videos related to

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Developmental Medicine and Child Neurology|July 19, 2012
Long-term outcome in pyridoxine-dependent epilepsyLevinus A Bok, Feico J Halbertsma, Saskia Houterman, et al.
Human Genetics|August 14, 1998
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch populationL P van den Heuvel, B Luiten, J A Smeitink, et al.
Annals of Neurology|July 17, 1998
Genetic characteristics of myoadenylate deaminase deficiencyH T Verzijl, B G van Engelen, J A Luyten, et al.
Annals of Human Genetics|June 28, 2001
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndromeP E Jira, R J Wanders, J A Smeitink, et al.
American Journal of Human Genetics|March 7, 2001
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiencyB A Binzak, R A Wevers, S H Moolenaar, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 23, 2003
High-resolution 1H NMR spectroscopy of amniotic fluids from spina bifida fetuses and controlsPascal M W Groenen, Udo F Engelke, Ron A Wevers, et al.
Journal of Medical Genetics|July 6, 2004
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)E Schollen, C G Frank, L Keldermans, et al.
Journal of Medical Genetics|April 3, 2004
DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndromeJ Deinum, G C H Steenbergen-Spanjers, M Jansen, et al.
NMR in Biomedicine|February 23, 2010
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiencyM Henneke, S Dreha-Kulaczewski, K Brockmann, et al.
Journal of Inherited Metabolic Disease|August 24, 2022
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiencyKatarina Šikić, Tessa M A Peters, Eugenija Marušić, et al.
Pageof 55

Showing results (331-340 of 543) with videos related to

Sort By:
Pageof 55
Developmental Medicine and Child Neurology|July 19, 2012
Long-term outcome in pyridoxine-dependent epilepsyLevinus A Bok, Feico J Halbertsma, Saskia Houterman, et al.
Human Genetics|August 14, 1998
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch populationL P van den Heuvel, B Luiten, J A Smeitink, et al.
Annals of Neurology|July 17, 1998
Genetic characteristics of myoadenylate deaminase deficiencyH T Verzijl, B G van Engelen, J A Luyten, et al.
Annals of Human Genetics|June 28, 2001
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndromeP E Jira, R J Wanders, J A Smeitink, et al.
American Journal of Human Genetics|March 7, 2001
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiencyB A Binzak, R A Wevers, S H Moolenaar, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 23, 2003
High-resolution 1H NMR spectroscopy of amniotic fluids from spina bifida fetuses and controlsPascal M W Groenen, Udo F Engelke, Ron A Wevers, et al.
Journal of Medical Genetics|July 6, 2004
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)E Schollen, C G Frank, L Keldermans, et al.
Journal of Medical Genetics|April 3, 2004
DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndromeJ Deinum, G C H Steenbergen-Spanjers, M Jansen, et al.
NMR in Biomedicine|February 23, 2010
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiencyM Henneke, S Dreha-Kulaczewski, K Brockmann, et al.
Journal of Inherited Metabolic Disease|August 24, 2022
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiencyKatarina Šikić, Tessa M A Peters, Eugenija Marušić, et al.
Pageof 55