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H Scheffer

Showing results (61-70 of 154) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|October 1, 1995
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamideW J Lubbers, E R Brunt, H Scheffer, et al.
Human Genetics|July 1, 1996
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The NetherlandsH G de Vries, K Niezen-Koning, J W Kliphuis, et al.
American Journal of Medical Genetics|September 24, 1999
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patientsU Moog, C E de Die-Smulders, H Scheffer, et al.
The Journal of Investigative Dermatology|March 25, 2000
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysisP H Hut, P v d Vlies, M F Jonkman, et al.
Lancet (London, England)|October 9, 1993
Allele sharing on chromosome 11q13 in sibs with asthma and atopyJ M Collée, L P ten Kate, H G de Vries, et al.
Human Genetics|August 1, 1992
Identification of crossovers in Wilson disease families as reference points for a genetic localization of the geneH Scheffer, R H Houwen, G J Te Meerman, et al.
Cell|February 21, 1997
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversionM F Jonkman, H Scheffer, R Stulp, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 27, 2004
[Four family members with proximal myotonic myopathy]A A Tieleman, M P van der Velden, M C Visser, et al.
Cancer Genetics and Cytogenetics|May 1, 1991
Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcomaH Scheffer, Y C Kruize, J Osinga, et al.
Neuropediatrics|October 12, 2005
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectivelyJ Klepper, H Scheffer, B Leiendecker, et al.
Pageof 16

Showing results (61-70 of 154) with videos related to

Sort By:
Pageof 16
Journal of Neurology, Neurosurgery, and Psychiatry|October 1, 1995
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamideW J Lubbers, E R Brunt, H Scheffer, et al.
Human Genetics|July 1, 1996
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The NetherlandsH G de Vries, K Niezen-Koning, J W Kliphuis, et al.
American Journal of Medical Genetics|September 24, 1999
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patientsU Moog, C E de Die-Smulders, H Scheffer, et al.
The Journal of Investigative Dermatology|March 25, 2000
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysisP H Hut, P v d Vlies, M F Jonkman, et al.
Lancet (London, England)|October 9, 1993
Allele sharing on chromosome 11q13 in sibs with asthma and atopyJ M Collée, L P ten Kate, H G de Vries, et al.
Human Genetics|August 1, 1992
Identification of crossovers in Wilson disease families as reference points for a genetic localization of the geneH Scheffer, R H Houwen, G J Te Meerman, et al.
Cell|February 21, 1997
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversionM F Jonkman, H Scheffer, R Stulp, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 27, 2004
[Four family members with proximal myotonic myopathy]A A Tieleman, M P van der Velden, M C Visser, et al.
Cancer Genetics and Cytogenetics|May 1, 1991
Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcomaH Scheffer, Y C Kruize, J Osinga, et al.
Neuropediatrics|October 12, 2005
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectivelyJ Klepper, H Scheffer, B Leiendecker, et al.
Pageof 16