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Konstanze Hörtnagel

Praxis

25

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244

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Sweat duct proliferation associated with aggregation of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma - a family with MALTA-syndrome.

2021 Journal Der Deutschen Dermatologischen Gesellschaft
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Impact on Clinical Decision Making of Next-generation Sequencing (NGS) in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center

2019
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Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10

2019 Journal Der Deutschen Dermatologischen Gesellschaft
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MALTA (MYH9 ASSOCIATED ELASTIN AGGREGATION) SYNDROME: GERMLINE VARIANTS IN MYH9 CAUSE RARE SWEAT DUCT PROLIFERATIONS AND IRREGULAR ELASTIN AGGREGATIONS

2019 Journal of Investigative Dermatology
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Epidermolytische Ichthyose mit Nachweis einer De-novo-Missense-Mutation c.1307T>C; p.Leu436Pro in KRT10

2019 Journal Der Deutschen Dermatologischen Gesellschaft
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P 856. Andermann’s Syndrome—Symptom Complex of Agenesis of the Corpus Callosum and Motor–Sensory Neuropathy

2018 Neuropediatrics
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A Novel PKD1 Mutation Associated with Autosomal Dominant Kidney Disease And Cerebral Cavernous Malformation

2018 Frontiers in Neurology
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Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

2017 Journal of Neurochemistry
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Dropped Head Syndrom als Folge einer behandelbaren metabolischen Myopathie

2017 Klinische Neurophysiologie
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Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 Neuropediatrics
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