1. A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability. Issue 5 (25th February 2019) Authors: Karoglan, Ante; Schanze, Denny; Bär, Claudia; Muschke, Petra; Zenker, Martin; Schanze, Ina Journal: American journal of medical genetics Issue: Volume 179:Issue 5(2019) Page Start: 832 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf‐Hirschhorn syndrome. Issue 12 (23rd September 2014) Authors: Wieland, Ilse; Schanze, Denny; Schanze, Ina; Volleth, Marianne; Muschke, Petra; Zenker, Martin Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila. Issue 12 (December 2014) Authors: Gregor, Anne; Kramer, Jamie M.; van der Voet, Monique; Schanze, Ina; Uebe, Steffen; Donders, Rogier; Reis, André; Schenck, Annette; Zweier, Christiane Journal: Human mutation Issue: Volume 35:Issue 12(2014:Dec.) Page Start: 1495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?. (14th May 2015) Authors: Lissewski, Christina; Kant, Sarina G.; Stark, Zornitza; Schanze, Ina; Zenker, Martin Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome. Issue 9 (8th July 2014) Authors: Schanze, Denny; Neubauer, Dorothée; Cormier‐Daire, Valerie; Delrue, Marie‐Ange; Dieux‐Coeslier, Anne; Hasegawa, Tomonobu; Holmberg, Eva E.; Koenig, Rainer; Krueger, Gabriele; Schanze, Ina; Seemanova, Eva; Shaw, Adam C.; Vogt, Julie; Volleth, Marianne; Reis, André; Meinecke, Peter; Hennekam, Raoul... Journal: Human mutation Issue: Volume 35:Issue 9(2014:Sep.) Page Start: 1092 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients. Issue 5 (13th March 2013) Authors: Busch, Maike; Leube, Barbara; Thiel, Anne; Schanze, Ina; Beier, Manfred; Royer‐Pokora, Brigitte Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis. Issue 6 (31st July 2017) Authors: Sukalo, Maja; Schäflein, Eva; Schanze, Ina; Everman, David B.; Rezaei, Nima; Argente, Jesús; Lorda‐Sanchez, Isabel; Deshpande, Charu; Takahashi, Tsutomu; Kleger, Alexander; Zenker, Martin Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 6(2017) Page Start: 774 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Issue 12 (23rd September 2014) Authors: Reuter, Miriam S.; Sass, Jörn Oliver; Leis, Thomas; Köhler, Julia; Mayr, Johannes A.; Feichtinger, René G.; Rauh, Manfred; Schanze, Ina; Bähr, Luzy; Trollmann, Regina; Uebe, Steffen; Ekici, Arif B.; Reis, André Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation. Issue 6 (11th March 2020) Authors: Martinelli, Simone; Pannone, Luca; Lissewski, Christina; Brinkmann, Julia; Flex, Elisabetta; Schanze, Denny; Calligari, Paolo; Anselmi, Massimiliano; Pantaleoni, Francesca; Canale, Viviana Claudia; Radio, Francesca Clementina; Ioannides, Adonis; Rahner, Nils; Schanze, Ina; Josifova, Dragana; Bocc... Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sema3a plays a role in the pathogenesis of CHARGE syndrome. (8th February 2018) Authors: Ufartes, Roser; Schwenty-Lara, Janina; Freese, Luisa; Neuhofer, Christiane; Möller, Janika; Wehner, Peter; van Ravenswaaij-Arts, Conny M A; Wong, Monica T Y; Schanze, Ina; Tzschach, Andreas; Bartsch, Oliver; Borchers, Annette; Pauli, Silke Journal: Human molecular genetics Issue: Volume 27:Number 8(2018:Apr. 15) Page Start: 1343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗