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Andreas Tzschach

Showing results (1-10 of 128) with videos related to

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Clinical Dysmorphology|April 9, 2016
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type ILuisa Mackenroth, Andreas Rump, Peter Lorenz, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)Luitgard M Graul-Neumann, Karola M Stieler, Ulrike Blume-Peytavi, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspringAndreas Rump, Laura Hildebrand, Andreas Tzschach, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomaliesMartin Kehrer, Karin Schäferhoff, Michael Bonin, et al.
European Journal of Pediatrics|July 28, 2010
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literatureYousef Shafeghati, Kimia Kahrizi, Hossein Najmabadi, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disabilityAngelika Riess, Ute Grasshoff, Karin Schäferhoff, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 18, 2016
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndromeJanina Gburek-Augustat, Stefanie Beck-Woedl, Andreas Tzschach, et al.
Muscle & Nerve|October 15, 2013
De novo partial deletion in GRID2 presenting with complicated spastic paraplegiaAndré Maier, Eva Klopocki, Denise Horn, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
Czech dysplasia: report of a large family and further delineation of the phenotypeAndreas Tzschach, Sigrid Tinschert, Elke Kaminsky, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disabilityGertrud Strobl-Wildemann, Vera M Kalscheuer, Hao Hu, et al.
Pageof 13

Showing results (1-10 of 128) with videos related to

Sort By:
Pageof 13
Clinical Dysmorphology|April 9, 2016
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type ILuisa Mackenroth, Andreas Rump, Peter Lorenz, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)Luitgard M Graul-Neumann, Karola M Stieler, Ulrike Blume-Peytavi, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspringAndreas Rump, Laura Hildebrand, Andreas Tzschach, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomaliesMartin Kehrer, Karin Schäferhoff, Michael Bonin, et al.
European Journal of Pediatrics|July 28, 2010
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literatureYousef Shafeghati, Kimia Kahrizi, Hossein Najmabadi, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disabilityAngelika Riess, Ute Grasshoff, Karin Schäferhoff, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 18, 2016
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndromeJanina Gburek-Augustat, Stefanie Beck-Woedl, Andreas Tzschach, et al.
Muscle & Nerve|October 15, 2013
De novo partial deletion in GRID2 presenting with complicated spastic paraplegiaAndré Maier, Eva Klopocki, Denise Horn, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
Czech dysplasia: report of a large family and further delineation of the phenotypeAndreas Tzschach, Sigrid Tinschert, Elke Kaminsky, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disabilityGertrud Strobl-Wildemann, Vera M Kalscheuer, Hao Hu, et al.
Pageof 13