Svenja Alter
0000-0003-2233-8734
5 papers found
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Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome
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