1. ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. (14th May 2015) Authors: Neuhann, Teresa M.; Stegerer, Annette; Riess, Angelika; Blair, Edward; Martin, Thomas; Wieser, Stefanie; Kläs, Rüdiger; Bouman, Arjan; Kuechler, Alma; Rittinger, Olaf Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. (14th May 2015) Authors: Neuhann, Teresa M.; Stegerer, Annette; Riess, Angelika; Blair, Edward; Martin, Thomas; Wieser, Stefanie; Kläs, Rüdiger; Bouman, Arjan; Kuechler, Alma; Rittinger, Olaf Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021) Authors: Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich... Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018) Authors: Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cochlear Implantation in Siblings With Refsum's Disease. (August 2017) Authors: Stähr, Kerstin; Kuechler, Alma; Gencik, Martin; Arnolds, Judith; Dendy, Meaghan; Lang, Stephan; Arweiler-Harbeck, Diana Journal: Annals of otology, rhinology & laryngology Issue: Volume 126:Number 8(2017:Aug.) Page Start: 611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021) Authors: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr... Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Defining the phenotypical spectrum associated with variants in TUBB2A. Issue 1 (22nd June 2020) Authors: Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria S... Journal: Journal of medical genetics Issue: Volume 58:Issue 1(2021) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes. Issue 3 (17th June 2019) Authors: Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Kuechler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann‐Josef; Guida, Valentina; Krumbiegel, Mand... Journal: Clinical genetics Issue: Volume 96:Issue 3(2019) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. Issue 5 (October 2015) Authors: Kuechler, Alma; Altmüller, Janine; Nürnberg, Peter; Kotthoff, Stefan; Kubisch, Christian; Borck, Guntram Journal: Molecular and cellular probes Issue: Volume 29:Issue 5(2015) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Issue 16 (26th March 2022) Authors: Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, ... Journal: Human molecular genetics Issue: Volume 31:Issue 16(2022) Page Start: 2766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗