1. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Issue 12 (3rd October 2013) Authors: Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wie... Journal: Journal of medical genetics Issue: Volume 50:Issue 12(2013) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. Issue 5 (24th March 2014) Authors: Bartholdi, Deborah; Stray‐Pedersen, Asbjørg; Azzarello‐Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt‐Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2. Issue 2 (6th November 2015) Authors: Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch‐Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R.; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 392 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Issue 4 (1st June 2015) Authors: Giarrana, Miriam L.; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea Journal: Muscle & nerve Issue: Volume 52:Issue 4(2015:Oct.) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018) Authors: Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic SEMA3A defects cause a novel type of syndromic short stature. Issue 11 (3rd October 2013) Authors: Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T.; Ekici, Arif B.; Reis, André; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Issue 6 (3rd February 2020) Authors: Nasser, Hala; Vera, Liza; Elmaleh-Bergès, Monique; Steindl, Katharina; Letard, Pascaline; Teissier, Natacha; Ernault, Anais; Guimiot, Fabien; Afenjar, Alexandra; Moutard, Marie Laure; Héron, Delphine; Alembik, Yves; Momtchilova, Martha; Milani, Paolo; Kubis, Nathalie; Pouvreau, Nathalie; Zollino,... Journal: Journal of medical genetics Issue: Volume 57:Issue 6(2020) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot. Issue 5 (30th November 2009) Authors: Rauch, Ralf; Hofbeck, Michael; Zweier, Christiane; Koch, Andreas; Zink, Stefan; Trautmann, Udo; Hoyer, Juliane; Kaulitz, Renate; Singer, Helmut; Rauch, Anita Journal: Journal of medical genetics Issue: Volume 47:Issue 5(2010) Page Start: 321 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy. Issue 12 (8th April 2017) Authors: Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Confirmation of mutations in the PROSC gene as a novel cause of vitamin B6 dependent epilepsy. (June 2017) Authors: Plecko, Barbara; Zweier, Markus; Begeman, Anais; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M.; Joset, Pascal; Sticht, Heinrich; Papuc, Mihaela S.; Rauch, Anita Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗