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H Scheffer

Showing results (51-60 of 154) with videos related to

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Neurogastroenterology and Motility|January 29, 2010
Effect of proximal gastric volume on hiatal herniaR C H Scheffer, A J Bredenoord, G S Hebbard, et al.
American Journal of Human Genetics|October 1, 1995
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophyJ M Cobben, G van der Steege, P Grootscholten, et al.
Journal of Inherited Metabolic Disease|February 19, 2004
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursorsJ Hessels, G Voortman, A van der Wagen, et al.
Human Genetics|June 1, 1993
Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13R F Kooy, A Y Van der Veen, E Verlind, et al.
World Journal of Emergency Surgery : WJES|October 8, 2008
Endocrine and metabolic response to trauma in hypovolemic patients treated at a trauma center in BrazilLuiz Cv Bahten, Fernando Ho Mauro, Maria F Domingos, et al.
European Journal of Human Genetics : EJHG|April 11, 2000
SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletionH Scheffer, J M Cobben, R G Mensink, et al.
Human Genetics|November 1, 1995
A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysisG van der Steege, J M Cobben, J Osinga, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|April 10, 2003
Reduced tLESR elicitation in response to gastric distension in fundoplication patientsR C H Scheffer, R P Tatum, G Shi, et al.
Journal of Medical Genetics|July 7, 2000
Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missenseH Scheffer, P Van Der Vlies, M Burton, et al.
Nature Biotechnology|April 3, 2001
Persistent failures in gene repairG van der Steege, P H Schuilenga-Hut, C H Buys, et al.
Pageof 16

Showing results (51-60 of 154) with videos related to

Sort By:
Pageof 16
Neurogastroenterology and Motility|January 29, 2010
Effect of proximal gastric volume on hiatal herniaR C H Scheffer, A J Bredenoord, G S Hebbard, et al.
American Journal of Human Genetics|October 1, 1995
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophyJ M Cobben, G van der Steege, P Grootscholten, et al.
Journal of Inherited Metabolic Disease|February 19, 2004
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursorsJ Hessels, G Voortman, A van der Wagen, et al.
Human Genetics|June 1, 1993
Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13R F Kooy, A Y Van der Veen, E Verlind, et al.
World Journal of Emergency Surgery : WJES|October 8, 2008
Endocrine and metabolic response to trauma in hypovolemic patients treated at a trauma center in BrazilLuiz Cv Bahten, Fernando Ho Mauro, Maria F Domingos, et al.
European Journal of Human Genetics : EJHG|April 11, 2000
SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletionH Scheffer, J M Cobben, R G Mensink, et al.
Human Genetics|November 1, 1995
A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysisG van der Steege, J M Cobben, J Osinga, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|April 10, 2003
Reduced tLESR elicitation in response to gastric distension in fundoplication patientsR C H Scheffer, R P Tatum, G Shi, et al.
Journal of Medical Genetics|July 7, 2000
Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missenseH Scheffer, P Van Der Vlies, M Burton, et al.
Nature Biotechnology|April 3, 2001
Persistent failures in gene repairG van der Steege, P H Schuilenga-Hut, C H Buys, et al.
Pageof 16