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Gudrun A Rappold

Showing results (61-70 of 77) with videos related to

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Stem Cell Reports|September 25, 2020
Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib SelectionSimon Alexander Sumer, Sandra Hoffmann, Svenja Laue, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 4, 2017
Investigation of SHANK3 in schizophreniaAna de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, et al.
Nature Genetics|May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationSimone Berkel, Christian R Marshall, Birgit Weiss, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activityRafiullah Rafiullah, Alyssa B Long, Anna A Ivanova, et al.
Frontiers in Genetics|July 30, 2019
Functional Characterization of Rare Variants in the <i>SHOX2</i> Gene Identified in Sinus Node Dysfunction and Atrial FibrillationSandra Hoffmann, Christoph Paone, Simon A Sumer, et al.
Neurogastroenterology and Motility|July 19, 2019
Postnatal human enteric neurospheres show a remarkable molecular complexityStefanie Schmitteckert, Tanja Mederer, Ralph Röth, et al.
Basic Research in Cardiology|May 4, 2016
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillationSandra Hoffmann, Sebastian Clauss, Ina M Berger, et al.
Molecular Neurodegeneration|June 3, 2021
Parkinson mice show functional and molecular changes in the gut long before motoric disease onsetManuela Gries, Anne Christmann, Steven Schulte, et al.
Human Mutation|September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsDenise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
Stem Cell Reports|September 25, 2020
Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib SelectionSimon Alexander Sumer, Sandra Hoffmann, Svenja Laue, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 4, 2017
Investigation of SHANK3 in schizophreniaAna de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, et al.
Nature Genetics|May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationSimone Berkel, Christian R Marshall, Birgit Weiss, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activityRafiullah Rafiullah, Alyssa B Long, Anna A Ivanova, et al.
Frontiers in Genetics|July 30, 2019
Functional Characterization of Rare Variants in the <i>SHOX2</i> Gene Identified in Sinus Node Dysfunction and Atrial FibrillationSandra Hoffmann, Christoph Paone, Simon A Sumer, et al.
Neurogastroenterology and Motility|July 19, 2019
Postnatal human enteric neurospheres show a remarkable molecular complexityStefanie Schmitteckert, Tanja Mederer, Ralph Röth, et al.
Basic Research in Cardiology|May 4, 2016
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillationSandra Hoffmann, Sebastian Clauss, Ina M Berger, et al.
Molecular Neurodegeneration|June 3, 2021
Parkinson mice show functional and molecular changes in the gut long before motoric disease onsetManuela Gries, Anne Christmann, Steven Schulte, et al.
Human Mutation|September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsDenise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.
Pageof 8