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H Scheffer

Showing results (101-110 of 154) with videos related to

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Human Genetics|January 1, 1997
Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspringH G de Vries, J M Collée, H E de Walle, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 1, 1993
Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type IJ M Cobben, M de Visser, H Scheffer, et al.
Human Genetics|March 1, 1996
Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashesH G de Vries, J M Collèe, M H van Veldhuizen, et al.
American Journal of Human Genetics|November 1, 1988
Eight closely linked loci place the Wilson disease locus within 13q14-q21A M Bowcock, L A Farrer, J M Hebert, et al.
Gastrointestinal Endoscopy|March 3, 2009
The additional value of EUS-guided Tru-cut biopsy to EUS-guided FNA in patients with mediastinal lesionsLieke P V Berger, Robert C H Scheffer, Bas L A M Weusten, et al.
Journal of Neurology|August 19, 2007
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer, H P H Kremer, Q H Leijten, et al.
Human Genetics|September 1, 1996
Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populationsH G de Vries, M A van der Meulen, R Rozen, et al.
American Journal of Human Genetics|August 1, 1989
Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 geneH Scheffer, G J te Meerman, Y C Kruize, et al.
American Journal of Human Genetics|October 1, 1996
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5G van der Steege, P M Grootscholten, J M Cobben, et al.
Human Genetics|December 1, 1995
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type IC C Verschuuren-Bemelmans, E R Brunt, M Burton, et al.
Pageof 16

Showing results (101-110 of 154) with videos related to

Sort By:
Pageof 16
Human Genetics|January 1, 1997
Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspringH G de Vries, J M Collée, H E de Walle, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 1, 1993
Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type IJ M Cobben, M de Visser, H Scheffer, et al.
Human Genetics|March 1, 1996
Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashesH G de Vries, J M Collèe, M H van Veldhuizen, et al.
American Journal of Human Genetics|November 1, 1988
Eight closely linked loci place the Wilson disease locus within 13q14-q21A M Bowcock, L A Farrer, J M Hebert, et al.
Gastrointestinal Endoscopy|March 3, 2009
The additional value of EUS-guided Tru-cut biopsy to EUS-guided FNA in patients with mediastinal lesionsLieke P V Berger, Robert C H Scheffer, Bas L A M Weusten, et al.
Journal of Neurology|August 19, 2007
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer, H P H Kremer, Q H Leijten, et al.
Human Genetics|September 1, 1996
Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populationsH G de Vries, M A van der Meulen, R Rozen, et al.
American Journal of Human Genetics|August 1, 1989
Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 geneH Scheffer, G J te Meerman, Y C Kruize, et al.
American Journal of Human Genetics|October 1, 1996
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5G van der Steege, P M Grootscholten, J M Cobben, et al.
Human Genetics|December 1, 1995
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type IC C Verschuuren-Bemelmans, E R Brunt, M Burton, et al.
Pageof 16