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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
2018 - Forschungsinformationssystem des UKE
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
2015 - Forschungsinformationssystem des UKE
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
2015 - Forschungsinformationssystem des UKE