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M Van Geel

Showing results (81-90 of 171) with videos related to

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The British Journal of Dermatology|October 12, 2011
Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31I F Nagtzaam, A P A Stegmann, P M Steijlen, et al.
The British Journal of Dermatology|September 8, 2011
Molecular genetic support for the rule of dichotomy in type 2 segmental Darier diseaseR Fölster-Holst, R G L Nellen, J-M Jensen, et al.
Orphanet Journal of Rare Diseases|February 9, 2019
Disease progression in women with X-linked adrenoleukodystrophy is slowIrene C Huffnagel, Marcel G W Dijkgraaf, Georges E Janssens, et al.
The British Journal of Dermatology|September 22, 2010
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndromeE A de Zwart-Storm, M van Geel, E Veysey, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|August 7, 2009
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratodermaR J Schimmel, A M Van Tuyll Van Serooskerke, R S Bladergroen, et al.
Human Mutation|December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsS Kemp, A Pujol, H R Waterham, et al.
Annals of Neurology|January 5, 2002
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysisLemmers RJL, P de Kievit, M van Geel, et al.
The British Journal of Dermatology|January 8, 2013
Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 geneR G L Nellen, P M Steijlen, H C Hennies, et al.
The British Journal of Dermatology|October 24, 2007
Novel EBP gene mutations in Conradi-Hünermann-Happle syndromeP M Steijlen, M van Geel, M Vreeburg, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|November 18, 2023
Validated extended multiplexed LC-MS/MS assay for the quantification of adagrasib and sotorasib in human plasma, together with four additional SMIsPaul D Kruithof, Yvo M de Beer, Judith L Gulikers, et al.
Pageof 18

Showing results (81-90 of 171) with videos related to

Sort By:
Pageof 18
The British Journal of Dermatology|October 12, 2011
Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31I F Nagtzaam, A P A Stegmann, P M Steijlen, et al.
The British Journal of Dermatology|September 8, 2011
Molecular genetic support for the rule of dichotomy in type 2 segmental Darier diseaseR Fölster-Holst, R G L Nellen, J-M Jensen, et al.
Orphanet Journal of Rare Diseases|February 9, 2019
Disease progression in women with X-linked adrenoleukodystrophy is slowIrene C Huffnagel, Marcel G W Dijkgraaf, Georges E Janssens, et al.
The British Journal of Dermatology|September 22, 2010
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndromeE A de Zwart-Storm, M van Geel, E Veysey, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|August 7, 2009
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratodermaR J Schimmel, A M Van Tuyll Van Serooskerke, R S Bladergroen, et al.
Human Mutation|December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsS Kemp, A Pujol, H R Waterham, et al.
Annals of Neurology|January 5, 2002
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysisLemmers RJL, P de Kievit, M van Geel, et al.
The British Journal of Dermatology|January 8, 2013
Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 geneR G L Nellen, P M Steijlen, H C Hennies, et al.
The British Journal of Dermatology|October 24, 2007
Novel EBP gene mutations in Conradi-Hünermann-Happle syndromeP M Steijlen, M van Geel, M Vreeburg, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|November 18, 2023
Validated extended multiplexed LC-MS/MS assay for the quantification of adagrasib and sotorasib in human plasma, together with four additional SMIsPaul D Kruithof, Yvo M de Beer, Judith L Gulikers, et al.
Pageof 18