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Liesbeth Spruijt

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Journal of Child Neurology|July 19, 2011
Clinical phenotype of 5 females with a CDKL5 mutationXenia L Stalpers, Liesbeth Spruijt, Helger G Yntema, et al.
Clinical Dysmorphology|October 29, 2002
VATER--tibia aplasia association: report on two patientsLiesbeth Spruijt, Koen Devriendt, Jos Offermans, et al.
European Journal of Human Genetics : EJHG|March 11, 2004
Founder mutations among the DutchMaurice P A Zeegers, Frans van Poppel, Robert Vlietinck, et al.
Familial Cancer|April 23, 2013
Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomesAisha S Sie, Judith B Prins, Liesbeth Spruijt, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)Liesbeth Spruijt, Pieter Verdyck, Wim Van Hul, et al.
Archives of Otolaryngology--Head & Neck Surgery|April 3, 2002
The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infectionJoseph L Edmonds, Daniel J Kirse, Donald Kearns, et al.
American Journal of Human Genetics|May 9, 2003
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathyNeil Howell, Roelof-Jan Oostra, Piet A Bolhuis, et al.
Biochimica Et Biophysica Acta|October 20, 2009
Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylationAlex Korsten, Irenaeus F M de Coo, Liesbeth Spruijt, et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|August 27, 2013
Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancerMarieke Arts-de Jong, Catharina M Manders, Nicoline Hoogerbrugge, et al.
American Journal of Ophthalmology|March 28, 2006
Influence of mutation type on clinical expression of Leber hereditary optic neuropathyLiesbeth Spruijt, Dinanda N Kolbach, Rene F de Coo, et al.
Pageof 5

Showing results (1-10 of 47) with videos related to

Sort By:
Pageof 5
Journal of Child Neurology|July 19, 2011
Clinical phenotype of 5 females with a CDKL5 mutationXenia L Stalpers, Liesbeth Spruijt, Helger G Yntema, et al.
Clinical Dysmorphology|October 29, 2002
VATER--tibia aplasia association: report on two patientsLiesbeth Spruijt, Koen Devriendt, Jos Offermans, et al.
European Journal of Human Genetics : EJHG|March 11, 2004
Founder mutations among the DutchMaurice P A Zeegers, Frans van Poppel, Robert Vlietinck, et al.
Familial Cancer|April 23, 2013
Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomesAisha S Sie, Judith B Prins, Liesbeth Spruijt, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)Liesbeth Spruijt, Pieter Verdyck, Wim Van Hul, et al.
Archives of Otolaryngology--Head & Neck Surgery|April 3, 2002
The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infectionJoseph L Edmonds, Daniel J Kirse, Donald Kearns, et al.
American Journal of Human Genetics|May 9, 2003
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathyNeil Howell, Roelof-Jan Oostra, Piet A Bolhuis, et al.
Biochimica Et Biophysica Acta|October 20, 2009
Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylationAlex Korsten, Irenaeus F M de Coo, Liesbeth Spruijt, et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|August 27, 2013
Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancerMarieke Arts-de Jong, Catharina M Manders, Nicoline Hoogerbrugge, et al.
American Journal of Ophthalmology|March 28, 2006
Influence of mutation type on clinical expression of Leber hereditary optic neuropathyLiesbeth Spruijt, Dinanda N Kolbach, Rene F de Coo, et al.
Pageof 5