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Cells
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May 27, 2015
WIPI-Mediated Autophagy and Longevity
Mona Grimmel, Charlotte Backhaus, Tassula Proikas-Cezanne
Cells
|
March 16, 2019
ATG-18 and EPG-6 are Both Required for Autophagy but Differentially Contribute to Lifespan Control in <i>Caenorhabditis elegans</i>
Zsuzsanna Takacs, Katharina Sporbeck, Jennifer Stoeckle, et al.
Nutrition (Burbank, Los Angeles County, Calif.)
|
July 3, 2021
Resolution of severe hepatosteatosis in a cystic fibrosis patient with multifactorial choline deficiency: A case report
Wolfgang Bernhard, Anna Shunova, Jürgen Machann, et al.
Annals of Clinical and Translational Neurology
|
June 6, 2021
Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy
Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, et al.
Diagnostics (Basel, Switzerland)
|
April 3, 2021
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families
Sarah C Grünert, Luciana Hannibal, Anke Schumann, et al.
Molecular Syndromology
|
October 12, 2019
Novel <i>HIVEP2</i> Variants in Patients with Intellectual Disability
Joohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
Clinical Genetics
|
December 1, 2022
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
Carolina Alvarez, Mona Grimmel, Darius Ebrahimi-Fakhari, et al.
Neuropediatrics
|
October 17, 2023
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
Charlotte Thiels, Thomas Lücke, Tobias Rothoeft, et al.
European Journal of Medical Genetics
|
May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Human Genetics
|
May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
Daniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
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Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
Cells
|
May 27, 2015
WIPI-Mediated Autophagy and Longevity
Mona Grimmel, Charlotte Backhaus, Tassula Proikas-Cezanne
Cells
|
March 16, 2019
ATG-18 and EPG-6 are Both Required for Autophagy but Differentially Contribute to Lifespan Control in <i>Caenorhabditis elegans</i>
Zsuzsanna Takacs, Katharina Sporbeck, Jennifer Stoeckle, et al.
Nutrition (Burbank, Los Angeles County, Calif.)
|
July 3, 2021
Resolution of severe hepatosteatosis in a cystic fibrosis patient with multifactorial choline deficiency: A case report
Wolfgang Bernhard, Anna Shunova, Jürgen Machann, et al.
Annals of Clinical and Translational Neurology
|
June 6, 2021
Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy
Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, et al.
Diagnostics (Basel, Switzerland)
|
April 3, 2021
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families
Sarah C Grünert, Luciana Hannibal, Anke Schumann, et al.
Molecular Syndromology
|
October 12, 2019
Novel <i>HIVEP2</i> Variants in Patients with Intellectual Disability
Joohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
Clinical Genetics
|
December 1, 2022
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
Carolina Alvarez, Mona Grimmel, Darius Ebrahimi-Fakhari, et al.
Neuropediatrics
|
October 17, 2023
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
Charlotte Thiels, Thomas Lücke, Tobias Rothoeft, et al.
European Journal of Medical Genetics
|
May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Human Genetics
|
May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
Daniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
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of 3