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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Editorial - Diagnostic genome sequencing in rare disorders
Peter Krawitz, Tobias B Haack
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 14, 2022
Reply to: "Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected"
Isabell Cordts, Tobias B Haack, Marcus Deschauer
Genes
|
October 26, 2024
Reply to Battke et al. Comment on "Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. <i>Genes</i> 2024, <i>15</i>, 136"
Joohyun Park, Marc Sturm, Tobias B Haack
Journal of Cutaneous Pathology
|
October 21, 2021
Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings
Klaus Harzer, Stefanie Beck-Wödl, Tobias B Haack
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 19, 2022
Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia
Benita Menden, Alexander Gutschalk, Gilbert Wunderlich, et al.
Annals of Neurology
|
July 19, 2023
Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification
Johanna Härtl, Tobias B Haack, Isabell Cordts, et al.
Neurogenetics
|
August 17, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde, Meike Steinbach, Tobias B Haack, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 3, 2014
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations
Matthis Synofzik, Christoph Kernstock, Tobias B Haack, et al.
Frontiers in Neuroscience
|
November 28, 2024
Mutations in mitochondrial <i>ATAD3</i> gene and disease, lessons from <i>in vivo</i> models
Marcel Brügel, Ann-Sophie Kiesel, Tobias B Haack, et al.
Clinical Genetics
|
March 20, 2019
Bain type of X-linked syndromic mental retardation in boys
Stefani Harmsen, Rebecca Buchert, Ertan Mayatepek, et al.
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Search research articles
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Showing results (1-10 of 331) with videos related to
Sort By:
Page
of 34
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Editorial - Diagnostic genome sequencing in rare disorders
Peter Krawitz, Tobias B Haack
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 14, 2022
Reply to: "Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected"
Isabell Cordts, Tobias B Haack, Marcus Deschauer
Genes
|
October 26, 2024
Reply to Battke et al. Comment on "Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. <i>Genes</i> 2024, <i>15</i>, 136"
Joohyun Park, Marc Sturm, Tobias B Haack
Journal of Cutaneous Pathology
|
October 21, 2021
Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings
Klaus Harzer, Stefanie Beck-Wödl, Tobias B Haack
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 19, 2022
Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia
Benita Menden, Alexander Gutschalk, Gilbert Wunderlich, et al.
Annals of Neurology
|
July 19, 2023
Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification
Johanna Härtl, Tobias B Haack, Isabell Cordts, et al.
Neurogenetics
|
August 17, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde, Meike Steinbach, Tobias B Haack, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 3, 2014
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations
Matthis Synofzik, Christoph Kernstock, Tobias B Haack, et al.
Frontiers in Neuroscience
|
November 28, 2024
Mutations in mitochondrial <i>ATAD3</i> gene and disease, lessons from <i>in vivo</i> models
Marcel Brügel, Ann-Sophie Kiesel, Tobias B Haack, et al.
Clinical Genetics
|
March 20, 2019
Bain type of X-linked syndromic mental retardation in boys
Stefani Harmsen, Rebecca Buchert, Ertan Mayatepek, et al.
Page
of 34