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Janine Altmüller

Showing results (51-60 of 326) with videos related to

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American Journal of Medical Genetics. Part A|October 13, 2020
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hoursDaniel Bamborschke, Özkan Özdemir, Mona Kreutzer, et al.
Cancers|May 14, 2022
<i>RB1</i>-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal DifferentiationDeniz Kanber, Julia Woestefeld, Hannah Döpper, et al.
Antioxidants (Basel, Switzerland)|May 27, 2023
The Fate of Oxidative Strand Breaks in Mitochondrial DNAGenevieve Trombly, Afaf Milad Said, Alexei P Kudin, et al.
Journal of Medical Genetics|April 18, 2018
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathyIlse Julia Broekaert, Kerstin Becker, Ingo Gottschalk, et al.
The Pan African Medical Journal|August 16, 2021
Homozygous nonsense mutation of <i>WNT10B</i> gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case reportSiham Chafai Elalaoui, Nawfal Fejjal, Yun Li, et al.
Human Mutation|February 1, 2012
Assessing the enrichment performance in targeted resequencing experimentsPeter Frommolt, Ali T Abdallah, Janine Altmüller, et al.
Molecular Syndromology|April 8, 2020
A Novel Mutation in <i>PIGA</i> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival HyperplasiaChristiane M Neuhofer, Rudolf Funke, Bernd Wilken, et al.
Nature Communications|June 26, 2021
SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activityVolker Boehm, Sabrina Kueckelmann, Jennifer V Gerbracht, et al.
Science Advances|November 19, 2021
R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damageOurania Chatzidoukaki, Kalliopi Stratigi, Evi Goulielmaki, et al.
Plos One|February 9, 2013
Human trace amine-associated receptor TAAR5 can be activated by trimethylamineIvonne Wallrabenstein, Jonas Kuklan, Lea Weber, et al.
Pageof 33

Showing results (51-60 of 326) with videos related to

Sort By:
Pageof 33
American Journal of Medical Genetics. Part A|October 13, 2020
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hoursDaniel Bamborschke, Özkan Özdemir, Mona Kreutzer, et al.
Cancers|May 14, 2022
<i>RB1</i>-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal DifferentiationDeniz Kanber, Julia Woestefeld, Hannah Döpper, et al.
Antioxidants (Basel, Switzerland)|May 27, 2023
The Fate of Oxidative Strand Breaks in Mitochondrial DNAGenevieve Trombly, Afaf Milad Said, Alexei P Kudin, et al.
Journal of Medical Genetics|April 18, 2018
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathyIlse Julia Broekaert, Kerstin Becker, Ingo Gottschalk, et al.
The Pan African Medical Journal|August 16, 2021
Homozygous nonsense mutation of <i>WNT10B</i> gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case reportSiham Chafai Elalaoui, Nawfal Fejjal, Yun Li, et al.
Human Mutation|February 1, 2012
Assessing the enrichment performance in targeted resequencing experimentsPeter Frommolt, Ali T Abdallah, Janine Altmüller, et al.
Molecular Syndromology|April 8, 2020
A Novel Mutation in <i>PIGA</i> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival HyperplasiaChristiane M Neuhofer, Rudolf Funke, Bernd Wilken, et al.
Nature Communications|June 26, 2021
SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activityVolker Boehm, Sabrina Kueckelmann, Jennifer V Gerbracht, et al.
Science Advances|November 19, 2021
R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damageOurania Chatzidoukaki, Kalliopi Stratigi, Evi Goulielmaki, et al.
Plos One|February 9, 2013
Human trace amine-associated receptor TAAR5 can be activated by trimethylamineIvonne Wallrabenstein, Jonas Kuklan, Lea Weber, et al.
Pageof 33