Theresa Brunet
Klinikum rechts der Isar der Technischen Universität München
9 papers found
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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
UploadClinico-genetic findings in 509 frontotemporal dementia patients.
Download from www.nature.comDe novo variants in neurodevelopmental disorders—experiences from a tertiary care center
UploadA homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy
Download from doi.orgDefining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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