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J M Cobben

Showing results (41-50 of 63) with videos related to

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Prenatal Diagnosis|October 27, 2004
Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case reportK L Deurloo, J M Cobben, Y M Heins, et al.
Journal of Medical Genetics|May 20, 2000
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndromeC Blanck, J Kohlhase, S Engels, et al.
European Journal of Medical Genetics|December 9, 2008
Compound-heterozygous Marfan syndromeF S Van Dijk, B C Hamel, Y Hilhorst-Hofstee, et al.
Journal of Intellectual Disability Research : JIDR|February 21, 2009
Down syndrome: a cardiovascular perspectiveJ C Vis, M G J Duffels, M M Winter, et al.
Molecular Human Reproduction|October 23, 1998
Preimplantation genetic diagnosis of spinal muscular atrophyJ C Dreesen, M Bras, C de Die-Smulders, et al.
American Journal of Medical Genetics|February 25, 1998
Pfeiffer syndrome type 2: further delineation and review of the literatureA S Plomp, B C Hamel, J M Cobben, et al.
Lancet (London, England)|April 15, 1995
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophyG van der Steege, P M Grootscholten, P van der Vlies, et al.
European Journal of Medical Genetics|October 5, 2014
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disabilityJ M Cobben, M M Weiss, F S van Dijk, et al.
European Journal of Medical Genetics|November 17, 2011
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patientE D Setijowati, F S van Dijk, J M Cobben, 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.
Pageof 7

Showing results (41-50 of 63) with videos related to

Sort By:
Pageof 7
Prenatal Diagnosis|October 27, 2004
Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case reportK L Deurloo, J M Cobben, Y M Heins, et al.
Journal of Medical Genetics|May 20, 2000
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndromeC Blanck, J Kohlhase, S Engels, et al.
European Journal of Medical Genetics|December 9, 2008
Compound-heterozygous Marfan syndromeF S Van Dijk, B C Hamel, Y Hilhorst-Hofstee, et al.
Journal of Intellectual Disability Research : JIDR|February 21, 2009
Down syndrome: a cardiovascular perspectiveJ C Vis, M G J Duffels, M M Winter, et al.
Molecular Human Reproduction|October 23, 1998
Preimplantation genetic diagnosis of spinal muscular atrophyJ C Dreesen, M Bras, C de Die-Smulders, et al.
American Journal of Medical Genetics|February 25, 1998
Pfeiffer syndrome type 2: further delineation and review of the literatureA S Plomp, B C Hamel, J M Cobben, et al.
Lancet (London, England)|April 15, 1995
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophyG van der Steege, P M Grootscholten, P van der Vlies, et al.
European Journal of Medical Genetics|October 5, 2014
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disabilityJ M Cobben, M M Weiss, F S van Dijk, et al.
European Journal of Medical Genetics|November 17, 2011
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patientE D Setijowati, F S van Dijk, J M Cobben, 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.
Pageof 7