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Dissertation/ Thesis

Relevant deubiquitinating enzymes in cilium formation and function in the retina: USP48

Authors : Sánchez Bellver, Laura; University/Department: Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística; ...

Subjects: Genètica humana; Genética humana; Human genetics

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Mapping protein aggregation by deep mutational scanning

Authors : Seuma Areñas, Mireia; University/Department: Universitat de Barcelona. Facultat de Farmàcia i Ciències de l'Alimentació; ...

Subjects: Genètica humana; Genética humana; Human genetics

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Variants genètiques de baixa penetrància en la predisposició germinal al càncer colorectal i la síndrome de poliposi serrada

Authors : Arnau Collell, Coral; University/Department: Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut; ...

Subjects: Ciències de la vida; Ciencias de la vida; Life sciences

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Unraveling potential disease modifiers of myotonic dystrophy type 1

Authors : Koehorst, Emma Agathe; University/Department: Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut; ...

Subjects: Neurologia; Neurología; Neurology616.8

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Molecular epidemiology study on genetically regulated gene expression in the colonic mucosa and its role in disease susceptibility

Authors : Díez Obrero, Virginia; University/Department: Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut; ...

Subjects: Genètica humana; Genética humana; Human genetics

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Dissecting genetic regulatory mechanisms in human pancreatic islets to gain insights into type 2 diabetes pathophysiology

Authors : Atla, Goutham; University/Department: Universitat de Barcelona. Facultat de Medicina; ...

Subjects: Genètica humana; Genética humana; Human genetics

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Development and validation of a sequencing panel for translocations, copy number alterations and mutations with clinical relevance in mature B-cell neoplasms

Authors : Gómez Llonin, Andrea; University/Department: Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística; ...

Subjects: Citogenètica; Citogenética; Cytogenetics

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

β-cells cis-regulatory networks and type 1 diabetes

Authors : Ramos Rodríguez, Mireia; University/Department: Universitat de Barcelona. Facultat de Biologia; ...

Subjects: Regulació genètica; Regulación genética; Genetic regulation

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Detection and classification of somatic structural variants, and its application in the study of neuronal development

Authors : Planas Fèlix, Mercè; University/Department: Universitat de Barcelona. Facultat de Biologia; ...

Subjects: Càncer; Cáncer; Cancer

Source: TDX (Tesis Doctorals en Xarxa)

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Dissertation/ Thesis

Study of complex chromosomal rearrangements in cancer. The role of extrachromosomal circular DNA as a genome remodeler in neuroblastoma

Authors : Rodriguez Fos, Elias; University/Department: Universitat de Barcelona. Facultat de Biologia; ...

Subjects: Genètica humana; Genética humana; Human genetics

Source: TDX (Tesis Doctorals en Xarxa)

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