V. Kunde

Sixteen novel mutations in <i>PNPLA1</i> in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in <i>PNPLA1</i> that is essential for proper human skin barrier function

Andreas Zimmer, G.J. Kim, Alrun Hotz et al. · British Journal of Dermatology · 2017 · 31 citations

Life Sciences, Genetics, Molecular Genetics +16

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone

Mert Karakaya, Raoul Heller, V. Kunde et al. · Neuropediatrics · 2016 · 22 citations

Life Sciences, Genetics, Molecular Genetics +16

Refining the dermatological spectrum in primary immunodeficiency: mucosa‐associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes

Henning Wiegmann, Janine Reunert, Dieter Metze et al. · British Journal of Dermatology · 2019 · 19 citations

Life Sciences, Dermatology, Immunology +17