1. 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) ↗
2. Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. Issue 8 (1st June 2021) Authors: Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer, Alessandra; Gerth‐Kahlert, Christina; Tutschek, Boris; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria. Issue 8 (21st June 2013) Authors: Bartholdi, Deborah; Asadollahi, Reza; Oneda, Beatrice; Schmitt‐Mechelke, Thomas; Tonella, Paolo; Baumer, Alessandra; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High‐resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. (21st March 2014) Authors: Oneda, Beatrice; Baldinger, Rosa; Reissmann, Regina; Reshetnikova, Irina; Krejci, Pavel; Masood, Rahim; Ochsenbein‐Kölble, Nicole; Bartholdi, Deborah; Steindl, Katharina; Morotti, Denise; Faranda, Marzia; Baumer, Alessandra; Asadollahi, Reza; Joset, Pascal; Niedrist, Dunja; Breymann, Christian; H... Journal: Prenatal diagnosis Issue: Volume 34:Number 6(2014:Jun.) Page Start: 525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications. Issue 9 (2nd August 2013) Authors: Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Superti‐Furga, Andrea; Moreira, Lilia M.A.; Santo, Layla D.E.; Schiper, Patricia P.; Carvalho, José Henrique Dantas; Giedion, Andres Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications. Issue 9 (2nd August 2013) Authors: Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Superti‐Furga, Andrea; Moreira, Lilia M.A.; Santo, Layla D.E.; Schiper, Patricia P.; Carvalho, José Henrique Dantas; Giedion, Andres Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics. Issue 1 (15th July 2015) Authors: Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M.; Mathis, Déborah; Rauch, Anita; Plecko, Barbara Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. Issue 4 (1st April 2000) Authors: Kotzot, Dieter; Martinez, Maria-Jose; Bagci, Gulseren; Basaran, Seher; Baumer, Alessandra; Binkert, Franz; Brecevic, Lucrecja; Castellan, Claudio; Chrzanowska, Krystyna; Dutly, Fabrizio; Gutkowska, Anna; Karaüzüm, Sibel Berker; Krajewska-Walasek, Malgorzata; Luleci, Guven; Miny, Peter; Riegel, Ma... Journal: Journal of medical genetics Issue: Volume 37:Issue 4(2000) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The clinical significance of small copy number variants in neurodevelopmental disorders. Issue 10 (8th August 2014) Authors: Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Sticht, Heinrich; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Thiel, Christian T; Ekici, Arif B; Reis, André; Bijlsma, Emilia K; Andrieux,... Journal: Journal of medical genetics Issue: Volume 51:Issue 10(2014) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Variants in CUL4B are Associated with Cerebral Malformations. Issue 1 (January 2015) Authors: Vulto‐van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi‐Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Phi... Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗