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Mads Bak

Showing results (51-60 of 84) with videos related to

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European Journal of Human Genetics : EJHG|July 18, 2013
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2Lusine Nazaryan, Eunice G Stefanou, Claus Hansen, et al.
Human Mutation|April 30, 2019
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndromeLusine Nazaryan-Petersen, Inês R Oliveira, Mana M Mehrjouy, et al.
Human Mutation|February 7, 2018
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassemblyZuzana Slamova, Lusine Nazaryan-Petersen, Mana M Mehrjouy, et al.
Scientific Reports|September 2, 2022
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patientsNanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, et al.
Clinical Genetics|January 23, 2025
Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual DisabilityVanessa Sodré de Souza, Halinna Dornelles Wawruk, Mana M Mehrjouy, et al.
Nucleic Acids Research|December 26, 2007
Antagonism of microRNA-122 in mice by systemically administered LNA-antimiR leads to up-regulation of a large set of predicted target mRNAs in the liverJoacim Elmén, Morten Lindow, Asli Silahtaroglu, et al.
European Journal of Human Genetics : EJHG|March 24, 2019
Haploinsufficiency of ARHGAP42 is associated with hypertensionAmanda S Fjorder, Malene B Rasmussen, Mana M Mehrjouy, et al.
Scientific Reports|December 22, 2017
Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencingJoanna M Łopacińska-Jørgensen, Jonas N Pedersen, Mads Bak, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 19, 2020
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B GeneSara Bech, Annemette Løkkegaard, Troels T Nielsen, et al.
Cold Spring Harbor Molecular Case Studies|April 15, 2022
9p21.3 Microdeletion involving <i>CDKN2A/2B</i> in a young patient with multiple primary cancers and review of the literatureMarlene Richter Jensen, Ulrik Stoltze, Thomas Van Overeem Hansen, et al.
Pageof 9

Showing results (51-60 of 84) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|July 18, 2013
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2Lusine Nazaryan, Eunice G Stefanou, Claus Hansen, et al.
Human Mutation|April 30, 2019
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndromeLusine Nazaryan-Petersen, Inês R Oliveira, Mana M Mehrjouy, et al.
Human Mutation|February 7, 2018
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassemblyZuzana Slamova, Lusine Nazaryan-Petersen, Mana M Mehrjouy, et al.
Scientific Reports|September 2, 2022
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patientsNanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, et al.
Clinical Genetics|January 23, 2025
Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual DisabilityVanessa Sodré de Souza, Halinna Dornelles Wawruk, Mana M Mehrjouy, et al.
Nucleic Acids Research|December 26, 2007
Antagonism of microRNA-122 in mice by systemically administered LNA-antimiR leads to up-regulation of a large set of predicted target mRNAs in the liverJoacim Elmén, Morten Lindow, Asli Silahtaroglu, et al.
European Journal of Human Genetics : EJHG|March 24, 2019
Haploinsufficiency of ARHGAP42 is associated with hypertensionAmanda S Fjorder, Malene B Rasmussen, Mana M Mehrjouy, et al.
Scientific Reports|December 22, 2017
Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencingJoanna M Łopacińska-Jørgensen, Jonas N Pedersen, Mads Bak, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 19, 2020
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B GeneSara Bech, Annemette Løkkegaard, Troels T Nielsen, et al.
Cold Spring Harbor Molecular Case Studies|April 15, 2022
9p21.3 Microdeletion involving <i>CDKN2A/2B</i> in a young patient with multiple primary cancers and review of the literatureMarlene Richter Jensen, Ulrik Stoltze, Thomas Van Overeem Hansen, et al.
Pageof 9