1. [P2–117]: APP 3'UTR VARIANT IN A PATIENT WITH MCI AND WITHOUT SIGNS OF CEREBRAL AMYLOID ANGIOPATHY: A CASE REPORT. (1st July 2017) Authors: Kennel, Jennifer; Biskup, Saskia; Hörtnagel, Konstanze; Metzger, Silke; Hoffmann, Jessica; Ernst, Nina; Riemenschneider, Matthias Journal: Alzheimer's & dementia Issue: Volume 13:Supplement 7S(2017)Part 13 Page Start: P651 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Issue 12 (14th September 2016) Authors: Hogrebe, Max; Murakami, Yoshiko; Wild, Martin; Ahlmann, Martina; Biskup, Saskia; Hörtnagel, Konstanze; Grüneberg, Marianne; Reunert, Janine; Linden, Tobias; Kinoshita, Taroh; Marquardt, Thorsten Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bilaterale faziale Schweißdrüsenproliferationen und Atrophodermia vermiculata: Simulator des mikrozystischen Adnexkarzinoms – eine Familie mit MALTA‐Syndrom. (21st July 2021) Authors: Mentzel, Julia; Wetzig, Tino; Rütten, Arno; Hörtnagel, Konstanze; Tischkowitz, Marc; Ziemer, Mirjana Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 19:Number 7(2021) Page Start: 1052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10. (6th December 2018) Authors: Kuske, Marvin; Berndt, Katja; Meinel, Giada; Abraham, Susanne; Oji, Vinzenz; Reicherter, Kerstin; Hörtnagel, Konstanze; Beissert, Stefan; Bauer, Andrea Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 1(2019) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epidermolytische Ichthyose mit Nachweis einer De‐novo‐Missense‐Mutation c.1307T>C; p.Leu436Pro in KRT10. (7th January 2019) Authors: Kuske, Marvin; Berndt, Katja; Meinel, Giada; Abraham, Susanne; Oji, Vinzenz; Reicherter, Kerstin; Hörtnagel, Konstanze; Beissert, Stefan; Bauer, Andrea Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 1(2019) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies. Issue 5 (7th November 2017) Authors: Dohrn, Maike F.; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B.; Claeys, Kristl G.; Gess, Burkhard; Katon... Journal: Journal of neurochemistry Issue: Volume 143:Issue 5(2017) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Issue 8 (17th March 2016) Authors: Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande... Other Names: author non-byline.; Craiu Dana author non-byline.; De Jonghe Peter author non-byline.; Helbig Ingo author non-byline.; Guerrini Renzo author non-byline.; Lehesjoki Anna-Elina author non-byline.; Marini Carla author non-byline.; Muhle Hiltrud author non-byline.; Møller Rikke S author non-byline.;... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Issue 1 (2nd January 2014) Authors: Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De,... Journal: Annals of neurology Issue: Volume 75:Issue 1(2014:Jan.) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Issue 4 (14th October 2017) Authors: Moawia, Abubakar; Shaheen, Ranad; Rasool, Sajida; Waseem, Syeda Seema; Ewida, Nour; Budde, Birgit; Kawalia, Amit; Motameny, Susanne; Khan, Kamal; Fatima, Ambrin; Jameel, Muhammad; Ullah, Farid; Akram, Talia; Ali, Zafar; Abdullah, Uzma; Irshad, Saba; Höhne, Wolfgang; Noegel, Angelika Anna; Al‐Owai... Journal: Annals of neurology Issue: Volume 82:Issue 4(2017) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. (2nd January 2018) Authors: Feldhaus, Britta; Kohl, Susanne; Hörtnagel, Konstanze; Weisschuh, Nicole; Zobor, Ditta Journal: Ophthalmic genetics Issue: Volume 39:Number 1(2018) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗