Next generation sequencing in clinical practice: Illustrated by studies in hereditary connective tissue disorders

E. Overwater

Next generation sequencing in clinical practice: Illustrated by studies in hereditary connective tissue disorders

Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

Abstract

The research in this thesis was performed at the department of human genetics of the Amsterdam UMC. At location AMC there is a long-standing history of care for patients with Marfan syndrome and related disorders. In addition, genetic testing for these disorders has been performed at the diagnostic laboratory of the VUmc for years. Combined, we were able to study both clinical and genetic

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	University of Amsterdam
Supervisors/Advisors	Meijers-Heijboer, Hanne, Supervisor Houweling, A. C., Co-supervisor, External person Maugeri, A., Co-supervisor, External person Meijers-Heijboer, E.J., Supervisor, External person
Award date	21 Nov 2023
Print ISBNs	9789464696226
Publication status	Published - 2023

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abstract = "The research in this thesis was performed at the department of human genetics of the Amsterdam UMC. At location AMC there is a long-standing history of care for patients with Marfan syndrome and related disorders. In addition, genetic testing for these disorders has been performed at the diagnostic laboratory of the VUmc for years. Combined, we were able to study both clinical and genetic",

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AB - The research in this thesis was performed at the department of human genetics of the Amsterdam UMC. At location AMC there is a long-standing history of care for patients with Marfan syndrome and related disorders. In addition, genetic testing for these disorders has been performed at the diagnostic laboratory of the VUmc for years. Combined, we were able to study both clinical and genetic

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M3 - Phd-Thesis - Research and graduation internal

SN - 9789464696226

ER -

Next generation sequencing in clinical practice: Illustrated by studies in hereditary connective tissue disorders

Abstract

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