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Matthias Hammerschmidt

Showing results (111-120 of 125) with videos related to

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Plos One|January 16, 2007
Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretomeMichael A Pickart, Eric W Klee, Aubrey L Nielsen, et al.
Plos Biology|November 8, 2021
NAMPT-derived NAD+ fuels PARP1 to promote skin inflammation through parthanatos cell deathFrancisco J Martínez-Morcillo, Joaquín Cantón-Sandoval, Francisco J Martínez-Navarro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
The Journal of Clinical Investigation|August 29, 2017
Dysfunction of the MDM2/p53 axis is linked to premature agingDavor Lessel, Danyi Wu, Carlos Trujillo, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosisKatharina Keupp, Yun Li, Ibrahim Vargel, et al.
American Journal of Human Genetics|October 23, 2012
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing lossSimon von Ameln, Geng Wang, Redouane Boulouiz, et al.
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
The Journal of Clinical Investigation|March 5, 2014
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophyThomas M Wishart, Chantal A Mutsaers, Markus Riessland, et al.
International Journal of Cancer|February 27, 2015
FAM96A is a novel pro-apoptotic tumor suppressor in gastrointestinal stromal tumorsBettina Schwamb, Robert Pick, Sara Beatriz Mateus Fernández, et al.
Plos One|January 20, 2018
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxAmelie T van der Ven, Birgit Kobbe, Stefan Kohl, et al.
Pageof 13

Showing results (111-120 of 125) with videos related to

Sort By:
Pageof 13
Plos One|January 16, 2007
Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretomeMichael A Pickart, Eric W Klee, Aubrey L Nielsen, et al.
Plos Biology|November 8, 2021
NAMPT-derived NAD+ fuels PARP1 to promote skin inflammation through parthanatos cell deathFrancisco J Martínez-Morcillo, Joaquín Cantón-Sandoval, Francisco J Martínez-Navarro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
The Journal of Clinical Investigation|August 29, 2017
Dysfunction of the MDM2/p53 axis is linked to premature agingDavor Lessel, Danyi Wu, Carlos Trujillo, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosisKatharina Keupp, Yun Li, Ibrahim Vargel, et al.
American Journal of Human Genetics|October 23, 2012
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing lossSimon von Ameln, Geng Wang, Redouane Boulouiz, et al.
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
The Journal of Clinical Investigation|March 5, 2014
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophyThomas M Wishart, Chantal A Mutsaers, Markus Riessland, et al.
International Journal of Cancer|February 27, 2015
FAM96A is a novel pro-apoptotic tumor suppressor in gastrointestinal stromal tumorsBettina Schwamb, Robert Pick, Sara Beatriz Mateus Fernández, et al.
Plos One|January 20, 2018
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxAmelie T van der Ven, Birgit Kobbe, Stefan Kohl, et al.
Pageof 13