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Holger Prokisch

Showing results (111-120 of 394) with videos related to

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Nature Protocols|January 19, 2021
Detection of aberrant gene expression events in RNA sequencing dataVicente A Yépez, Christian Mertes, Michaela F Müller, et al.
Molecular Genetics and Metabolism|May 30, 2017
Detection of 6-demethoxyubiquinone in CoQ<sub>10</sub> deficiency disorders: Insights into enzyme interactions and identification of potential therapeuticsDiran Herebian, Annette Seibt, Sander H J Smits, et al.
European Journal of Human Genetics : EJHG|February 7, 2019
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper exportAmelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, et al.
Molecular Systems Biology|February 20, 2019
Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissuesBasak Eraslan, Dongxue Wang, Mirjana Gusic, et al.
Molecular Brain|December 23, 2011
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletionsMatthias Elstner, Sarina K Müller, Lars Leidolt, et al.
International Journal of Molecular Sciences|August 7, 2021
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRSFrederik Braun, Andreas Hentschel, Albert Sickmann, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
Impact of common regulatory single-nucleotide variants on gene expression profiles in whole bloodDivya Mehta, Katharina Heim, Christian Herder, et al.
Molecular Genetics and Metabolism|March 10, 2026
Transaldolase deficiency - natural disease course towards adulthoodViktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
Clinical Epigenetics|March 23, 2021
Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseasesChen Yao, Roby Joehanes, Rory Wilson, et al.
International Journal of Molecular Sciences|October 27, 2022
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 DeficiencyGerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, et al.
Pageof 40

Showing results (111-120 of 394) with videos related to

Sort By:
Pageof 40
Nature Protocols|January 19, 2021
Detection of aberrant gene expression events in RNA sequencing dataVicente A Yépez, Christian Mertes, Michaela F Müller, et al.
Molecular Genetics and Metabolism|May 30, 2017
Detection of 6-demethoxyubiquinone in CoQ<sub>10</sub> deficiency disorders: Insights into enzyme interactions and identification of potential therapeuticsDiran Herebian, Annette Seibt, Sander H J Smits, et al.
European Journal of Human Genetics : EJHG|February 7, 2019
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper exportAmelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, et al.
Molecular Systems Biology|February 20, 2019
Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissuesBasak Eraslan, Dongxue Wang, Mirjana Gusic, et al.
Molecular Brain|December 23, 2011
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletionsMatthias Elstner, Sarina K Müller, Lars Leidolt, et al.
International Journal of Molecular Sciences|August 7, 2021
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRSFrederik Braun, Andreas Hentschel, Albert Sickmann, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
Impact of common regulatory single-nucleotide variants on gene expression profiles in whole bloodDivya Mehta, Katharina Heim, Christian Herder, et al.
Molecular Genetics and Metabolism|March 10, 2026
Transaldolase deficiency - natural disease course towards adulthoodViktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
Clinical Epigenetics|March 23, 2021
Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseasesChen Yao, Roby Joehanes, Rory Wilson, et al.
International Journal of Molecular Sciences|October 27, 2022
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 DeficiencyGerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, et al.
Pageof 40