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Hartmut Engels

Showing results (1-10 of 73) with videos related to

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European Journal of Medical Genetics|June 10, 2006
First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterizationUlrike Gamerdinger, Kristin Bosse, Thomas Eggermann, et al.
American Journal of Medical Genetics|September 5, 2002
Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrationsHartmut Engels, Kristin Bosse, Antje Ehrbrecht, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)Susanne Zahn, Antje Ehrbrecht, Kristin Bosse, et al.
European Journal of Medical Genetics|June 24, 2009
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedemaUlrich Zechner, Nicolai Kohlschmidt, Olga Kempf, et al.
BJU International|August 3, 2007
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridizationHeiko Reutter, Alexander Hoischen, Michael Ludwig, et al.
European Journal of Medical Genetics|October 19, 2010
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardationEva Wohlleber, Maria Kirchhoff, Alexander M Zink, et al.
Frontiers in Pediatrics|June 21, 2018
<i>De Novo</i> Duplication of 11p15 Associated With Congenital Diaphragmatic HerniaGabriel C Dworschak, Hartmut Engels, Jessica Becker, et al.
American Journal of Medical Genetics. Part A|August 3, 2019
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotypeIsabel Spier, Hartmut Engels, Sonja Stutte, et al.
American Journal of Human Genetics|September 5, 2015
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin SignalingGeorgia Vasileiou, Arif B Ekici, Steffen Uebe, et al.
The Journal of Physiology|March 19, 2002
Expression pattern and functional characteristics of two novel splice variants of the two-pore-domain potassium channel TREK-2Wenli Gu, Günter Schlichthörl, Jochen R Hirsch, et al.
Pageof 8

Showing results (1-10 of 73) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|June 10, 2006
First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterizationUlrike Gamerdinger, Kristin Bosse, Thomas Eggermann, et al.
American Journal of Medical Genetics|September 5, 2002
Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrationsHartmut Engels, Kristin Bosse, Antje Ehrbrecht, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)Susanne Zahn, Antje Ehrbrecht, Kristin Bosse, et al.
European Journal of Medical Genetics|June 24, 2009
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedemaUlrich Zechner, Nicolai Kohlschmidt, Olga Kempf, et al.
BJU International|August 3, 2007
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridizationHeiko Reutter, Alexander Hoischen, Michael Ludwig, et al.
European Journal of Medical Genetics|October 19, 2010
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardationEva Wohlleber, Maria Kirchhoff, Alexander M Zink, et al.
Frontiers in Pediatrics|June 21, 2018
<i>De Novo</i> Duplication of 11p15 Associated With Congenital Diaphragmatic HerniaGabriel C Dworschak, Hartmut Engels, Jessica Becker, et al.
American Journal of Medical Genetics. Part A|August 3, 2019
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotypeIsabel Spier, Hartmut Engels, Sonja Stutte, et al.
American Journal of Human Genetics|September 5, 2015
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin SignalingGeorgia Vasileiou, Arif B Ekici, Steffen Uebe, et al.
The Journal of Physiology|March 19, 2002
Expression pattern and functional characteristics of two novel splice variants of the two-pore-domain potassium channel TREK-2Wenli Gu, Günter Schlichthörl, Jochen R Hirsch, et al.
Pageof 8