1. Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit. Issue 7 (23rd May 2018) Authors: Rehder, Helga; Laccone, Franco; Kircher, Susanne G.; Schild, Ralf L.; Rapp, Christiane; Bald, Rainer; Schulze, Bernt; Behunova, Jana; Neesen, Juergen; Schoner, Katharina Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome. Issue 8 (28th June 2019) Authors: Soler‐Cardona, Ana; Brandau, Oliver; Laccone, Franco; Tanew, Adrian; Radakovic, Sonja Journal: Clinical case reports Issue: Volume 7:Issue 8(2019) Page Start: 1522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern. Issue 2 (16th December 2019) Authors: Schoner, Katharina; Witsch‐Baumgartner, Martina; Behunova, Jana; Petrovic, Robert; Bald, Rainer; Kircher, Susanne G.; Ramaswamy, Annette; Kluge, Britta; Meyer‐Wittkopf, Matthias; Schmitz, Ralf; Fritz, Barbara; Zschocke, Johannes; Laccone, Franco; Rehder, Helga Journal: Birth defects research Issue: Volume 112:Issue 2(2020) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss. Issue 6 (July 2021) Authors: Frohne, Alexandra; Koenighofer, Martin; Liu, David Tianxiang; Laccone, Franco; Neesen, Juergen; Gstoettner, Wolfgang; Schoefer, Christian; Lucas, Trevor; Frei, Klemens; Parzefall, Thomas Journal: Otology & neurotology Issue: Volume 42:Issue 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma. (5th May 2021) Authors: Koenighofer, Martin; Parzefall, Thomas; Frohne, Alexandra; Frei, Elisabeth; Schoefer, Christian; Laccone, Franco; Feil, Patricia; Frei, Klemens; Lucas, Trevor Journal: Clinical otolaryngology Issue: Volume 46:Number 5(2021) Page Start: 1044 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C. (June 2019) Authors: Finsterer, Josef; Wakil, Salma M.; Laccone, Franco Journal: Journal of clinical neuroscience Issue: Volume 64(2019) Page Start: 4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). Issue 2 (1st February 1999) Authors: Klockgether, Thomas; Schöls, Ludger; Abele, Michael; Bürk, Katrin; Topka, Helge; Andres, Frank; Amoiridis, Georgios; Lüdtke, Rainer; Riess, Olaf; Laccone, Franco; Dichgans, Johannes Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 66:Issue 2(1999) Page Start: 222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020) Authors: Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,... Journal: Lancet neurology Issue: Volume 19:Issue 11(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Painful nodules. (30th May 2016) Authors: Valero, Teresa; Brandau, Oliver; Laccone, Franco; Radakovic, Sonja Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 14:Number 6(2016) Page Start: 627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Schmerzhafte Knoten. (30th May 2016) Authors: Valero, Teresa; Brandau, Oliver; Laccone, Franco; Radakovic, Sonja Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 14:Number 6(2016) Page Start: 627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗