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Kathrin Blaesius

2PUBLICATIONS

0CO-AUTHORS

Gene and molecular therapyGene mapping

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Publications (2)

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|Oct 06, 2018

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

Kathrin Blaesius, Ansar A Abbasi, Tufail H Tahir

|Oct 15, 2017

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.

Ansar A Abbasi, Kathrin Blaesius, Hao Hu

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