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Han G Brunner

Showing results (201-210 of 318) with videos related to

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Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Current Biology : CB|December 18, 2018
Neandertal Introgression Sheds Light on Modern Human Endocranial GlobularityPhilipp Gunz, Amanda K Tilot, Katharina Wittfeld, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
European Journal of Human Genetics : EJHG|August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Circulation. Arrhythmia and Electrophysiology|September 30, 2020
Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients With Idiopathic Dilated CardiomyopathyJob A J Verdonschot, Jort J Merken, Antonius M W van Stipdonk, et al.
Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Frontiers in Genetics|January 23, 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare diseaseAbderrahim Marouane, Kornelia Neveling, A Chantal Deden, et al.
European Journal of Human Genetics : EJHG|April 26, 2002
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East EuropeAlessandra Maugeri, Kris Flothmann, Nadine Hemmrich, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Pageof 32

Showing results (201-210 of 318) with videos related to

Sort By:
Pageof 32
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Current Biology : CB|December 18, 2018
Neandertal Introgression Sheds Light on Modern Human Endocranial GlobularityPhilipp Gunz, Amanda K Tilot, Katharina Wittfeld, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
European Journal of Human Genetics : EJHG|August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Circulation. Arrhythmia and Electrophysiology|September 30, 2020
Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients With Idiopathic Dilated CardiomyopathyJob A J Verdonschot, Jort J Merken, Antonius M W van Stipdonk, et al.
Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Frontiers in Genetics|January 23, 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare diseaseAbderrahim Marouane, Kornelia Neveling, A Chantal Deden, et al.
European Journal of Human Genetics : EJHG|April 26, 2002
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East EuropeAlessandra Maugeri, Kris Flothmann, Nadine Hemmrich, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Pageof 32