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Thomas Eggermann

Showing results (71-80 of 269) 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.
Pediatric Nephrology (Berlin, Germany)|November 23, 2006
Xanthinuria type I: a rare cause of urolithiasisNina Arikyants, Ashot Sarkissian, Albrecht Hesse, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|March 11, 2022
Childhood adversity and approach/avoidance-related behaviour in boysNicola Grossheinrich, Julia Schaeffer, Christine Firk, et al.
Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/Official Journal Deutsche Gesellschaft Fur Kieferorthopadie|February 6, 2009
Interleukin-1 polymorphisms in relation to external apical root resorption (EARR)Norbert Gülden, Thomas Eggermann, Klaus Zerres, et al.
Epigenetics|March 16, 2012
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted lociMatthias Begemann, Isabelle Leisten, Lukas Soellner, et al.
Clinical Dysmorphology|June 12, 2021
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delayFelicitas Maier, Michael Frühwald, Uwe Heinrich, et al.
Pediatric Nephrology (Berlin, Germany)|September 19, 2013
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workupSebastian Kummer, Andreas Venghaus, Andrea Schlune, et al.
Molecular Genetics & Genomic Medicine|August 13, 2018
Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patientsThomas Eggermann, Susanne Ledig, Matthias Begemann, et al.
European Journal of Medical Genetics|December 23, 2015
First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylationAngelika Riess, Gerhard Binder, Julian Ziegler, et al.
Molecular Syndromology|January 2, 2023
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same FamilyChristian T Hübner, Asmaa K Amin, Daniela Dey, et al.
Pageof 27

Showing results (71-80 of 269) with videos related to

Sort By:
Pageof 27
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.
Pediatric Nephrology (Berlin, Germany)|November 23, 2006
Xanthinuria type I: a rare cause of urolithiasisNina Arikyants, Ashot Sarkissian, Albrecht Hesse, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|March 11, 2022
Childhood adversity and approach/avoidance-related behaviour in boysNicola Grossheinrich, Julia Schaeffer, Christine Firk, et al.
Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/Official Journal Deutsche Gesellschaft Fur Kieferorthopadie|February 6, 2009
Interleukin-1 polymorphisms in relation to external apical root resorption (EARR)Norbert Gülden, Thomas Eggermann, Klaus Zerres, et al.
Epigenetics|March 16, 2012
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted lociMatthias Begemann, Isabelle Leisten, Lukas Soellner, et al.
Clinical Dysmorphology|June 12, 2021
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delayFelicitas Maier, Michael Frühwald, Uwe Heinrich, et al.
Pediatric Nephrology (Berlin, Germany)|September 19, 2013
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workupSebastian Kummer, Andreas Venghaus, Andrea Schlune, et al.
Molecular Genetics & Genomic Medicine|August 13, 2018
Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patientsThomas Eggermann, Susanne Ledig, Matthias Begemann, et al.
European Journal of Medical Genetics|December 23, 2015
First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylationAngelika Riess, Gerhard Binder, Julian Ziegler, et al.
Molecular Syndromology|January 2, 2023
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same FamilyChristian T Hübner, Asmaa K Amin, Daniela Dey, et al.
Pageof 27