Mirjam M C Wamelink

5PUBLICATIONS
25CO-AUTHORS
Solid state chemistryDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)MechanobiologyMetabolic medicine
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Publications (5)

|May 19, 2026
Sulfate handling in proximal renal tubular defects: an exploratory study.

|Feb 09, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Troy C Lund, Kelly Miettunen, Yorrick R J Jaspers

|Jul 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.

Tessa M A Peters, Udo F H Engelke, Siebolt de Boer

|Aug 17, 2022
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.

Taco W Kuijpers, Andrica C H de Vries, Ester M van Leeuwen

|Jan 06, 2017
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

J Daniel Sharer, Olaf Bodamer, Nicola Longo

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