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Ingo Kurth

Showing results (61-70 of 145) with videos related to

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Endocrine Connections|September 5, 2022
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectivesDanielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, et al.
Molecular and Cellular Biology|November 30, 2006
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle functionIngo Kurth, Debra A Thompson, Klaus Rüther, et al.
The Journal of Investigative Dermatology|March 1, 2014
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formationPaola Fortugno, Emmanuelle Josselin, Konstantinos Tsiakas, et al.
Frontiers in Neurology|December 12, 2019
Novel Pathogenic Variants in a Cassette Exon of <i>CCM2</i> in Patients With Cerebral Cavernous MalformationsChristiane D Much, Konrad Schwefel, Dariush Skowronek, et al.
Therapeutic Advances in Neurological Disorders|August 2, 2021
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping studyNadine Egenolf, Caren Meyer Zu Altenschildesche, Luisa Kreß, et al.
Orphanet Journal of Rare Diseases|June 10, 2020
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)Thomas Eggermann, Miriam Elbracht, Ingo Kurth, et al.
Brain Pathology (Zurich, Switzerland)|May 19, 2020
Differential diagnosis of vacuolar myopathies in the NGS eraDorothea Mair, Saskia Biskup, Wolfram Kress, et al.
Clinical Genetics|December 12, 2024
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot StudyLuise Kessler, Jeremias Krause, Florian Kraft, et al.
Plos Genetics|December 7, 2016
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain PerceptionDeborah Chiabrando, Marco Castori, Maja di Rocco, et al.
Experimental Neurology|May 28, 2019
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgiaPeter Huppke, Eike Wegener, Jonathan Gilley, et al.
Pageof 15

Showing results (61-70 of 145) with videos related to

Sort By:
Pageof 15
Endocrine Connections|September 5, 2022
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectivesDanielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, et al.
Molecular and Cellular Biology|November 30, 2006
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle functionIngo Kurth, Debra A Thompson, Klaus Rüther, et al.
The Journal of Investigative Dermatology|March 1, 2014
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formationPaola Fortugno, Emmanuelle Josselin, Konstantinos Tsiakas, et al.
Frontiers in Neurology|December 12, 2019
Novel Pathogenic Variants in a Cassette Exon of <i>CCM2</i> in Patients With Cerebral Cavernous MalformationsChristiane D Much, Konrad Schwefel, Dariush Skowronek, et al.
Therapeutic Advances in Neurological Disorders|August 2, 2021
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping studyNadine Egenolf, Caren Meyer Zu Altenschildesche, Luisa Kreß, et al.
Orphanet Journal of Rare Diseases|June 10, 2020
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)Thomas Eggermann, Miriam Elbracht, Ingo Kurth, et al.
Brain Pathology (Zurich, Switzerland)|May 19, 2020
Differential diagnosis of vacuolar myopathies in the NGS eraDorothea Mair, Saskia Biskup, Wolfram Kress, et al.
Clinical Genetics|December 12, 2024
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot StudyLuise Kessler, Jeremias Krause, Florian Kraft, et al.
Plos Genetics|December 7, 2016
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain PerceptionDeborah Chiabrando, Marco Castori, Maja di Rocco, et al.
Experimental Neurology|May 28, 2019
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgiaPeter Huppke, Eike Wegener, Jonathan Gilley, et al.
Pageof 15