List of works by Thomas Markello

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

scientific article published on 31 January 2019

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

scientific article published on 24 May 2019

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

scientific article published on 09 March 2020

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