1. 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior. Issue 12 (24th September 2014) Authors: Dikow, Nicola; Maas, Bianca; Karch, Stephanie; Granzow, Martin; Janssen, Johannes W.G.; Jauch, Anna; Hinderhofer, Katrin; Sutter, Christian; Schubert‐Bast, Susanne; Anderlid, Britt Marie; Dallapiccola, Bruno; Van der Aa, Nathalie; Moog, Ute Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3061 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A boy with Silver–Russell syndrome and Sotos syndrome. Issue 2 (15th November 2020) Authors: Schwaibold, Eva M. C.; Beygo, Jasmin; Obeid, Katharina; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 549 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. Issue 2 (26th October 2015) Authors: Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lop... Journal: Journal of medical genetics Issue: Volume 53:Issue 2(2016) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome. Issue 4 (22nd December 2018) Authors: Moog, Ute; Dobyns, William B. Other Names: Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 4(2018) Page Start: 414 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Aspartylglucosaminuria: Unusual Neonatal Presentation in Qatari Twins With a Novel Aspartylglucosaminidase Gene Mutation and 3 New Cases in a Turkish Family. (January 2014) Authors: Opladen, Thomas; Ebinger, Friedrich; Zschocke, Johannes; Sengupta, Devjani; Ben-Omran, Tawfeg; Shahbeck, Noora; Moog, Ute; Fischer, Christine; Bürger, Friederike; Haas, Dorothea; Ruef, Peter; Harting, Inga; Al-Rifai, Hilal; Hoffmann, Georg F. Journal: Journal of child neurology Issue: Volume 29:Number 1(2014:Jan.) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome. Issue 5 (29th March 2017) Authors: Dikow, Nicola; Granzow, Martin; Graul‐Neumann, Luitgard M.; Karch, Stephanie; Hinderhofer, Katrin; Paramasivam, Nagarajan; Behl, Laura‐Jane; Kaufmann, Lilian; Fischer, Christine; Evers, Christina; Schlesner, Matthias; Eils, Roland; Borck, Guntram; Zweier, Christiane; Bartram, Claus R.; Carey, Joh... Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. Issue 7 (10th May 2017) Authors: Evers, Christina; Seitz, Angelika; Assmann, Birgit; Opladen, Thomas; Karch, Stephanie; Hinderhofer, Katrin; Granzow, Martin; Paramasivam, Nagarajan; Eils, Roland; Diessl, Nicolle; Bartram, Claus R.; Moog, Ute Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Duplication Xp11.22‐p14 in females: Does X‐inactivation help in assessing their significance?. (March 2015) Authors: Evers, Christina; Mitter, Diana; Strobl‐Wildemann, Gertrud; Haug, Ulrich; Hackmann, Karl; Maas, Bianca; Janssen, Johannes W. G.; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. Issue 6 (26th March 2016) Authors: Evers, Christina; Kaufmann, Lilian; Seitz, Angelika; Paramasivam, Nagarajan; Granzow, Martin; Karch, Stephanie; Fischer, Christine; Hinderhofer, Katrin; Gdynia, Georg; Elsässer, Michael; Pinkert, Stefan; Schlesner, Matthias; Bartram, Claus R.; Moog, Ute Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Issue 1 (29th August 2016) Authors: Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Gläser, Dieter; Joset, Pascal; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wödl, Stefanie; Kohlhase, Jürgen; Reis, André; Zweier, Chri... Journal: Journal of medical genetics Issue: Volume 54:Issue 1(2017) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗