1. A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye. Issue 4 (8th January 2020) Authors: Pölsler, Laura; Schatz, Ulrich A.; Simma, Burkhard; Zschocke, Johannes; Rudnik‐Schöneborn, Sabine Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 730 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. (23rd October 2019) Authors: Seidl‐Philipp, Magdalena; Schatz, Ulrich A.; Gasslitter, Irina; Moosbrugger‐Martinz, Verena; Blunder, Stefan; Schossig, Anna S.; Zschocke, Johannes; Schmuth, Matthias; Gruber, Robert Journal: EFSA journal Issue: Volume 18:Number 1(2020) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Spektrum der Ichthyosen in einer österreichischen Ichthyosekohorte von 2004–2007. (27th January 2020) Authors: Seidl‐Philipp, Magdalena; Schatz, Ulrich A.; Gasslitter, Irina; Moosbrugger‐Martinz, Verena; Blunder, Stefan; Schossig, Anna S.; Zschocke, Johannes; Schmuth, Matthias; Gruber, Robert Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 18:Number 1(2020) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗