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Christopher N Hahn

Showing results (21-30 of 54) with videos related to

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BMC Medical Genetics|February 19, 2020
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing lossParvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, et al.
The Journal of Molecular Diagnostics : JMD|July 22, 2017
A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with LeukemiaIlaria S Pagani, Chung H Kok, Verity A Saunders, et al.
Scientific Reports|July 10, 2015
Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and ProteomicsZhiqiang Hu, Hamish S Scott, Guangrong Qin, et al.
Genome Biology|October 6, 2009
Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profilingKing-Hwa Ling, Chelsee A Hewitt, Tim Beissbarth, et al.
Human Mutation|August 13, 2021
GATA2 deficiency syndrome: A decade of discoveryClaire C Homan, Parvathy Venugopal, Peer Arts, et al.
Frontiers in Cardiovascular Medicine|July 9, 2025
Case Report: A heterozygous loss-of-function variant of the <i>ERG</i> gene in a family with vascular pathologiesPhilipp Erhart, Nicola Dikow, Eva M C Schwaibold, et al.
Human Mutation|June 22, 2016
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome SequencingChristopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, et al.
BMC Genomics|April 7, 2011
Deep sequencing analysis of the developing mouse brain reveals a novel microRNAKing-Hwa Ling, Peter J Brautigan, Christopher N Hahn, et al.
NPJ Genomic Medicine|November 23, 2019
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6Alicia B Byrne, Peer Arts, Steven W Polyak, et al.
Genomics|January 24, 2016
Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brainKing-Hwa Ling, Peter J Brautigan, Sarah Moore, et al.
Pageof 6

Showing results (21-30 of 54) with videos related to

Sort By:
Pageof 6
BMC Medical Genetics|February 19, 2020
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing lossParvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, et al.
The Journal of Molecular Diagnostics : JMD|July 22, 2017
A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with LeukemiaIlaria S Pagani, Chung H Kok, Verity A Saunders, et al.
Scientific Reports|July 10, 2015
Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and ProteomicsZhiqiang Hu, Hamish S Scott, Guangrong Qin, et al.
Genome Biology|October 6, 2009
Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profilingKing-Hwa Ling, Chelsee A Hewitt, Tim Beissbarth, et al.
Human Mutation|August 13, 2021
GATA2 deficiency syndrome: A decade of discoveryClaire C Homan, Parvathy Venugopal, Peer Arts, et al.
Frontiers in Cardiovascular Medicine|July 9, 2025
Case Report: A heterozygous loss-of-function variant of the <i>ERG</i> gene in a family with vascular pathologiesPhilipp Erhart, Nicola Dikow, Eva M C Schwaibold, et al.
Human Mutation|June 22, 2016
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome SequencingChristopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, et al.
BMC Genomics|April 7, 2011
Deep sequencing analysis of the developing mouse brain reveals a novel microRNAKing-Hwa Ling, Peter J Brautigan, Christopher N Hahn, et al.
NPJ Genomic Medicine|November 23, 2019
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6Alicia B Byrne, Peer Arts, Steven W Polyak, et al.
Genomics|January 24, 2016
Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brainKing-Hwa Ling, Peter J Brautigan, Sarah Moore, et al.
Pageof 6