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J M Cobben

Showing results (51-60 of 63) with videos related to

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Human Molecular Genetics|May 1, 1996
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmentM A Crackower, S W Scherer, J M Rommens, 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.
Clinical Genetics|June 1, 1997
On the many faces of Leber hereditary optic neuropathyR J Oostra, N T Tijmes, J M Cobben, et al.
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.
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.
European Journal of Human Genetics : EJHG|January 1, 1996
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysisJ M Cobben, H Scheffer, M De Visser, et al.
Human Mutation|April 29, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT familiesR J Jongbloed, A A Wilde, J L Geelen, et al.
BMC Medical Genetics|July 20, 2015
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcomeW Kelmemi, M E Teeuw, Z Bochdanovits, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
Human Molecular Genetics|May 1, 1996
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmentM A Crackower, S W Scherer, J M Rommens, 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.
Clinical Genetics|June 1, 1997
On the many faces of Leber hereditary optic neuropathyR J Oostra, N T Tijmes, J M Cobben, et al.
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.
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.
European Journal of Human Genetics : EJHG|January 1, 1996
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysisJ M Cobben, H Scheffer, M De Visser, et al.
Human Mutation|April 29, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT familiesR J Jongbloed, A A Wilde, J L Geelen, et al.
BMC Medical Genetics|July 20, 2015
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcomeW Kelmemi, M E Teeuw, Z Bochdanovits, et al.
Pageof 7