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Publications by Mirjam M.C. Wamelink

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics
Genetics
2016English

Laboratory Diagnosis of Creatine Deficiency Syndromes: A Technical Standard and Guideline of the American College of Medical Genetics and Genomics

Genetics in Medicine
MedicineGenetics
2017English

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