1. Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Issue 1 (16th September 2019) Authors: Buers, Insa; Persico, Ivana; Schöning, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi, Puneet Kaur; Utine, Gulen Eda; Bayraktar‐Tanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura Journal: Clinical genetics Issue: Volume 97:Issue 1(2020) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. Issue 11 (23rd August 2016) Authors: Stella, Jacqueline; Buers, Insa; van de Wetering, Koen; Höhne, Wolfgang; Rutsch, Frank; Nitschke, Yvonne Journal: Human mutation Issue: Volume 37:Issue 11(2016) Page Start: 1190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc... Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Issue 4 (6th March 2014) Authors: Piras, Roberta; Chiappe, Francesca; Torraca, Ilaria La; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel‐Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold‐Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Çiğdem Seher; Kılıç, E... Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hereditary Disorders of Cardiovascular Calcification. Issue 1 (January 2021) Authors: Rutsch, Frank; Buers, Insa; Nitschke, Yvonne Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 41:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Lmbrd1 expression is essential for the initiation of gastrulation. Issue 8 (8th April 2016) Authors: Buers, Insa; Pennekamp, Petra; Nitschke, Yvonne; Lowe, Chrishanthi; Skryabin, Boris V.; Rutsch, Frank Journal: Journal of cellular and molecular medicine Issue: Volume 20:Issue 8(2016) Page Start: 1523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel interferonopathies associated with mutations in RIG-I like receptors. (June 2016) Authors: Buers, Insa; Nitschke, Yvonne; Rutsch, Frank Journal: Cytokine & growth factor reviews Issue: Volume 29:(2016) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Topography of Lipid Droplet-Associated Proteins: Insights from Freeze-Fracture Replica Immunogold Labeling. (26th December 2010) Authors: Robenek, Horst; Buers, Insa; Robenek, Mirko J.; Hofnagel, Oliver; Ruebel, Anneke; Troyer, David; Severs, Nicholas J. Other Names: Koynova Rumiana Academic Editor. Journal: Journal of lipids Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Topography of Lipid Droplet-Associated Proteins: Insights from Freeze-Fracture Replica Immunogold Labeling. (5th December 2010) Authors: Robenek, Horst; Buers, Insa; Robenek, Mirko J.; Hofnagel, Oliver; Ruebel, Anneke; Troyer, David; Severs, Nicholas J. Other Names: Koynova Rumiana Academic Editor. Journal: Journal of lipids Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗