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Prenatal Diagnosis
|
December 17, 2009
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings
P J G Zwijnenburg, K L Deurloo, H R Waterham, et al.
Case Reports in Genetics
|
February 25, 2020
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
M C J Dekker, A M Sadiq, R Mc Larty, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
August 22, 2008
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]
B T van Maldegem, M Duran, R J A Wanders, et al.
Molecular and Cellular Biology
|
June 8, 2001
Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae
C W van Roermund, R Drissen, M van Den Berg, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
June 13, 2003
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature
M E Rubio-Gozalbo, P Vos, P Ph Forget, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
May 15, 2001
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency
A B van Kuilenburg, E W Muller, J Haasjes, et al.
American Journal of Human Genetics
|
August 24, 2001
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
H R Waterham, J Koster, G J Romeijn, et al.
Clinical and Experimental Rheumatology
|
August 19, 2000
Mevalonate kinase deficiency and Dutch type periodic fever
J Frenkel, S M Houten, H R Waterham, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
May 9, 2000
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics]
J P Drenth, H R Waterham, W Kuis, et al.
Human Mutation
|
December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
S Kemp, A Pujol, H R Waterham, et al.
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Search research articles
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Showing results (61-70 of 97) with videos related to
Sort By:
Page
of 10
Prenatal Diagnosis
|
December 17, 2009
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings
P J G Zwijnenburg, K L Deurloo, H R Waterham, et al.
Case Reports in Genetics
|
February 25, 2020
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
M C J Dekker, A M Sadiq, R Mc Larty, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
August 22, 2008
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]
B T van Maldegem, M Duran, R J A Wanders, et al.
Molecular and Cellular Biology
|
June 8, 2001
Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae
C W van Roermund, R Drissen, M van Den Berg, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
June 13, 2003
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature
M E Rubio-Gozalbo, P Vos, P Ph Forget, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
May 15, 2001
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency
A B van Kuilenburg, E W Muller, J Haasjes, et al.
American Journal of Human Genetics
|
August 24, 2001
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
H R Waterham, J Koster, G J Romeijn, et al.
Clinical and Experimental Rheumatology
|
August 19, 2000
Mevalonate kinase deficiency and Dutch type periodic fever
J Frenkel, S M Houten, H R Waterham, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
May 9, 2000
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics]
J P Drenth, H R Waterham, W Kuis, et al.
Human Mutation
|
December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
S Kemp, A Pujol, H R Waterham, et al.
Page
of 10