1. Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa. (9th May 2020) Authors: Chateau, Antoinette; Kutsche, Kerstin; Fuchs, Sigrid; Harms, Frederike; Kruse, Carl‐Heinz; Mosam, Anisa Journal: International journal of dermatology Issue: Volume 59:Number 7(2020) Page Start: 864 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cell Banking of hiPSCs: A Practical Guide to Cryopreservation and Quality Control in Basic Research. (21st September 2020) Authors: Shibamiya, Aya; Schulze, Elisabeth; Krauß, Dana; Augustin, Christa; Reinsch, Marina; Schulze, Mirja Loreen; Steuck, Simone; Mearini, Giulia; Mannhardt, Ingra; Schulze, Thomas; Klampe, Birgit; Werner, Tessa; Saleem, Umber; Knaust, Anika; Laufer, Sandra D.; Neuber, Christiane; Lemme, Marta; Behrens... Journal: Current protocols in stem cell biology Issue: Volume 55(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Functional monosomy of 6q27‐qter and functional disomy of Xpter‐p22.11 due to X;6 translocation with an atypical X‐inactivation pattern. Issue 5 (31st March 2017) Authors: Podolska, Anna; Kobelt, Albrecht; Fuchs, Sigrid; Hackmann, Karl; Rump, Andreas; Schröck, Evelin; Kutsche, Kerstin; Di Donato, Nataliya Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Issue 9 (15th July 2020) Authors: Harms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, She... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2. Issue 11 (11th August 2020) Authors: Schneeberger, Pauline E.; Nayak, Shalini S.; Fuchs, Sigrid; Kutsche, Kerstin; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗