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List of works by Juliane Hoyer

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

scientific article (publication date: May 2015)

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

scientific article

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

scientific article

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

scientific article

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