Research ExplorerScientific StaffFanny Kortüm

ID: 50129

Fanny Kortüm

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Affiliations

Publications

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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projects

KO 4576/1-2 AOBJ: 629697

Project: Research

View all (1)