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Marc Sturm

Showing results (21-30 of 106) with videos related to

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Haematologica|August 1, 2024
Expanding the genetic landscape of congenital neutropenia: <i>CXCR2</i> mutations in three families revealed through whole exome sequencingMaksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, et al.
Acta Neuropathologica Communications|December 29, 2018
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, et al.
Parkinsonism & Related Disorders|October 13, 2020
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegiaMarcelo Miranda, Florian Harmuth, M Leonor Bustamante, et al.
Molecular Syndromology|October 12, 2019
Novel <i>HIVEP2</i> Variants in Patients with Intellectual DisabilityJoohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 10, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et alJoohyun Park, Natalie Deininger, Maren Rautenberg, et al.
Journal of Proteome Research|February 9, 2013
An automated pipeline for high-throughput label-free quantitative proteomicsHendrik Weisser, Sven Nahnsen, Jonas Grossmann, et al.
Journal of Neurology|November 21, 2022
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variantsJohanna Härtl, Julia Hartberger, Silke Wunderlich, et al.
Journal of the American Medical Informatics Association : JAMIA|October 30, 2014
HARVEST, a longitudinal patient record summarizerJamie S Hirsch, Jessica S Tanenbaum, Sharon Lipsky Gorman, et al.
Frontiers in Genetics|September 6, 2023
Unraveling haplotype errors in the DFNA33 locusBarbara Vona, Sabrina Regele, Aboulfazl Rad, et al.
BMC Bioinformatics|March 28, 2008
OpenMS - an open-source software framework for mass spectrometryMarc Sturm, Andreas Bertsch, Clemens Gröpl, et al.
Pageof 11

Showing results (21-30 of 106) with videos related to

Sort By:
Pageof 11
Haematologica|August 1, 2024
Expanding the genetic landscape of congenital neutropenia: <i>CXCR2</i> mutations in three families revealed through whole exome sequencingMaksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, et al.
Acta Neuropathologica Communications|December 29, 2018
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, et al.
Parkinsonism & Related Disorders|October 13, 2020
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegiaMarcelo Miranda, Florian Harmuth, M Leonor Bustamante, et al.
Molecular Syndromology|October 12, 2019
Novel <i>HIVEP2</i> Variants in Patients with Intellectual DisabilityJoohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 10, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et alJoohyun Park, Natalie Deininger, Maren Rautenberg, et al.
Journal of Proteome Research|February 9, 2013
An automated pipeline for high-throughput label-free quantitative proteomicsHendrik Weisser, Sven Nahnsen, Jonas Grossmann, et al.
Journal of Neurology|November 21, 2022
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variantsJohanna Härtl, Julia Hartberger, Silke Wunderlich, et al.
Journal of the American Medical Informatics Association : JAMIA|October 30, 2014
HARVEST, a longitudinal patient record summarizerJamie S Hirsch, Jessica S Tanenbaum, Sharon Lipsky Gorman, et al.
Frontiers in Genetics|September 6, 2023
Unraveling haplotype errors in the DFNA33 locusBarbara Vona, Sabrina Regele, Aboulfazl Rad, et al.
BMC Bioinformatics|March 28, 2008
OpenMS - an open-source software framework for mass spectrometryMarc Sturm, Andreas Bertsch, Clemens Gröpl, et al.
Pageof 11