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List of works by Christian Thiel

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

scientific article published on 14 October 2021

Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion

scientific article published on 01 January 2021

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip ⬇️

scientific article published on January 31, 2012

Mouse models for congenital disorders of glycosylation ⬇️

scientific article published on February 24, 2011

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus

scientific article published on 08 May 2019

Screening for congenital disorders of glycosylation in the first weeks of life ⬇️

scientific article published on September 19, 2012

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation ⬇️

scientific article published on September 16, 2012

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