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Nine newly identified individuals refine the phenotype associated with MYT1L mutations
2020 - Forschungsinformationssystem des UKE
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
2015 - Forschungsinformationssystem des UKE
A phenotype map for 14q32.3 terminal deletions.
2012 - Forschungsinformationssystem des UKE