Peter C van den Akker

17PUBLICATIONS
46CO-AUTHORS
Major global burdens of diseaseEpigenetics (incl. genome methylation and epigenomics)Anthropological geneticsEpidemiological modellingNeurogenetics
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Publications (17)

|Jun 11, 2024
Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients.

Eva W H Korte, Rosalie Baardman, Grieteke Pool

|Mar 11, 2024
Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

R Baardman, H H Lemmink, V K Yenamandra

|Jun 09, 2023
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

P Christian Remmelzwaal, Martijn V Verhagen, Jan D H Jongbloed

|Dec 21, 2022
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.

Hanna Breet, Yvonne J Vos, Trijnie Dijkhuizen

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