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H Scheffer

Showing results (111-120 of 154) with videos related to

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Genomics|July 1, 1994
Identification of key recombinants in multiplex SMA familiesG van der Steege, J M Cobben, C Brahe, et al.
Neurology|March 29, 2001
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALSJ H Veldink, L H van den Berg, J M Cobben, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
A provisional transcript map of the spinal muscular atrophy (SMA) critical regionG van der Steege, T G Draaijers, P M Grootscholten, et al.
Human Genetics|May 26, 1998
Three novel KCNA1 mutations in episodic ataxia type I familiesH Scheffer, E R Brunt, G J Mol, et al.
Neuropediatrics|November 11, 2008
MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical courseD I Zafeiriou, R J T Rodenburg, H Scheffer, et al.
The British Journal of Surgery|October 24, 2006
Randomized clinical trial of standard laparoscopic versus robot-assisted laparoscopic Nissen fundoplication for gastro-oesophageal reflux diseaseW A Draaisma, J P Ruurda, R C H Scheffer, et al.
Neuromuscular Disorders : NMD|July 1, 1993
Linkage and apparent heterogeneity in proximal spinal muscular atrophiesJ M Cobben, H Scheffer, M De Visser, et al.
Journal of Medical Genetics|March 1, 1994
Apparent SMA I unlinked to 5qJ M Cobben, H Scheffer, M de Visser, et al.
Neurology|August 12, 2005
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALSJ H Veldink, S Kalmijn, A H Van der Hout, et al.
Human Genetics|August 1, 1997
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosaH Scheffer, R P Stulp, E Verlind, et al.
Pageof 16

Showing results (111-120 of 154) with videos related to

Sort By:
Pageof 16
Genomics|July 1, 1994
Identification of key recombinants in multiplex SMA familiesG van der Steege, J M Cobben, C Brahe, et al.
Neurology|March 29, 2001
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALSJ H Veldink, L H van den Berg, J M Cobben, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
A provisional transcript map of the spinal muscular atrophy (SMA) critical regionG van der Steege, T G Draaijers, P M Grootscholten, et al.
Human Genetics|May 26, 1998
Three novel KCNA1 mutations in episodic ataxia type I familiesH Scheffer, E R Brunt, G J Mol, et al.
Neuropediatrics|November 11, 2008
MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical courseD I Zafeiriou, R J T Rodenburg, H Scheffer, et al.
The British Journal of Surgery|October 24, 2006
Randomized clinical trial of standard laparoscopic versus robot-assisted laparoscopic Nissen fundoplication for gastro-oesophageal reflux diseaseW A Draaisma, J P Ruurda, R C H Scheffer, et al.
Neuromuscular Disorders : NMD|July 1, 1993
Linkage and apparent heterogeneity in proximal spinal muscular atrophiesJ M Cobben, H Scheffer, M De Visser, et al.
Journal of Medical Genetics|March 1, 1994
Apparent SMA I unlinked to 5qJ M Cobben, H Scheffer, M de Visser, et al.
Neurology|August 12, 2005
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALSJ H Veldink, S Kalmijn, A H Van der Hout, et al.
Human Genetics|August 1, 1997
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosaH Scheffer, R P Stulp, E Verlind, et al.
Pageof 16