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Showing results (281-290 of 391) with videos related to

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Human Genetics|June 1, 2000
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISHV Bezrookove, K Hansson, M van der Burg, et al.
Human Genetics|May 19, 2006
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceMarjolein Kriek, Karoly Szuhai, Sarina G Kant, et al.
Clinical Genetics|May 29, 2009
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophyA T J M Helderman-van den Enden, R de Jong, J T den Dunnen, et al.
American Journal of Medical Genetics|June 5, 1995
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis)P E Taschner, N de Vos, J G Post, et al.
Clinical Genetics|May 11, 2007
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposisM Nielsen, F J Hes, F M Nagengast, et al.
Archives of Neurology|May 21, 2003
Incipient CADASILSaskia A J Lesnik Oberstein, Rivka van den Boom, Huub A M Middelkoop, et al.
Journal of Medical Genetics|April 3, 2004
Genomic imbalances in mental retardationM Kriek, S J White, M C Bouma, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The NetherlandsStephanie S Weinreich, Astrid Bosma, Lidewij Henneman, et al.
Nature Genetics|June 3, 2000
Mutations in ABCC6 cause pseudoxanthoma elasticumA A Bergen, A S Plomp, E J Schuurman, et al.
Human Mutation|August 19, 2006
Duplications in the DMD geneS J White, A Aartsma-Rus, K M Flanigan, et al.
Pageof 40

Showing results (281-290 of 391) with videos related to

Sort By:
Pageof 40
Human Genetics|June 1, 2000
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISHV Bezrookove, K Hansson, M van der Burg, et al.
Human Genetics|May 19, 2006
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceMarjolein Kriek, Karoly Szuhai, Sarina G Kant, et al.
Clinical Genetics|May 29, 2009
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophyA T J M Helderman-van den Enden, R de Jong, J T den Dunnen, et al.
American Journal of Medical Genetics|June 5, 1995
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis)P E Taschner, N de Vos, J G Post, et al.
Clinical Genetics|May 11, 2007
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposisM Nielsen, F J Hes, F M Nagengast, et al.
Archives of Neurology|May 21, 2003
Incipient CADASILSaskia A J Lesnik Oberstein, Rivka van den Boom, Huub A M Middelkoop, et al.
Journal of Medical Genetics|April 3, 2004
Genomic imbalances in mental retardationM Kriek, S J White, M C Bouma, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The NetherlandsStephanie S Weinreich, Astrid Bosma, Lidewij Henneman, et al.
Nature Genetics|June 3, 2000
Mutations in ABCC6 cause pseudoxanthoma elasticumA A Bergen, A S Plomp, E J Schuurman, et al.
Human Mutation|August 19, 2006
Duplications in the DMD geneS J White, A Aartsma-Rus, K M Flanigan, et al.
Pageof 40