Hochschulschrift

Impact of pathogenic SMS2 variants on lipid landscapes and membrane properties along the secretory pathway

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Dimensions: 30 cm

Extent: iv, 86 Blätter

Language: Englisch

Notes: Illustrationen, Diagramme
Universität Osnabrück, Dissertation, 2022

Classification: Biowissenschaften, Biologie

Event: Veröffentlichung

(where): Osnabrück

(when): March 2022

Creator: Sokoya, Tolulope Tolu Victor

Table of contents: https://d-nb.info/1283870037/04

Rights: Bei diesem Objekt liegt nur das Inhaltsverzeichnis digital vor. Der Zugriff darauf ist unbeschränkt möglich.

Last update: 11.06.2025, 2:02 PM CEST

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Hochschulschrift

Associated

Sokoya, Tolulope Tolu Victor

Time of origin

March 2022

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

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Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

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Hypoxia controls expression of kidney-pathogenic MUC1 variants

Dominant VPS16 pathogenic variants: not only isolated dystonia

Identification and Prioritization of Putative Pathogenic Structural Variants based on Functional Annotation

$Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy$

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Discovery and validation of coding and non-coding pathogenic variants in mitochondrial disorders

Evidence for a genotype–phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

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Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

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Pathogenic yeasts

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Impact of pathogenic SMS2 variants on lipid landscapes and membrane properties along the secretory pathway

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Other Objects (12)

Hypoxia controls expression of kidney-pathogenic MUC1 variants

Dominant VPS16 pathogenic variants: not only isolated dystonia

Identification and Prioritization of Putative Pathogenic Structural Variants based on Functional Annotation

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Discovery and validation of coding and non-coding pathogenic variants in mitochondrial disorders

Evidence for a genotype–phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Handling variants and adaption along the life cycle of event-aware workflows

Model Management along the IT Value Chain in Microservice-based IT Landscapes

Pathogenic yeasts

Hypoxia controls expression of kidney-pathogenic MUC1 variants

Dominant VPS16 pathogenic variants: not only isolated dystonia

Identification and Prioritization of Putative Pathogenic Structural Variants based on Functional Annotation

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Discovery and validation of coding and non-coding pathogenic variants in mitochondrial disorders

Evidence for a genotype–phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Handling variants and adaption along the life cycle of event-aware workflows

Model Management along the IT Value Chain in Microservice-based IT Landscapes

Pathogenic yeasts

Hypoxia controls expression of kidney-pathogenic MUC1 variants

Dominant VPS16 pathogenic variants: not only isolated dystonia

Identification and Prioritization of Putative Pathogenic Structural Variants based on Functional Annotation

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Discovery and validation of coding and non-coding pathogenic variants in mitochondrial disorders

Evidence for a genotype–phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Handling variants and adaption along the life cycle of event-aware workflows

Model Management along the IT Value Chain in Microservice-based IT Landscapes

Pathogenic yeasts

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