1. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. (2nd July 2016) Authors: Khan, Arif O.; Decker, Eva; Bachmann, Nadine; Bolz, Hanno J.; Bergmann, Carsten Journal: Ophthalmic genetics Issue: Volume 37:Number 3(2016) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease. Issue 5 (11th April 2013) Authors: Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al Turki, Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin; Vinke, Tobias; Toenshoff, Burkhard; Di Donato, Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radova... Journal: Human mutation Issue: Volume 34:Issue 5(2013:May) Page Start: 714 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia. (15th July 2020) Authors: Hoermann, Henrike; El‐Rifai, Omar; Schebek, Martin; Lodefalk, Maria; Brusgaard, Klaus; Bachmann, Nadine; Bergmann, Carsten; Roeper, Marcia; Welters, Alena; Salimi Dafsari, Roschan; Blankenstein, Oliver; Mayatepek, Ertan; Christesen, Henrik; Meissner, Thomas; Kummer, Sebastian Journal: Clinical endocrinology Issue: Volume 93:Number 3(2020) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Differences in Social and Mental Well-Being of Long-Term Survivors among People who Inject Drugs and Other Participants in the Swiss HIV Cohort Study: 1980–2018. Issue 1 (January 2020) Authors: Kusejko, Katharina; Marzel, Alex; Nguyen, Huyen; Chaudron, Sandra E; Bachmann, Nadine; Weber, Rainer; Bruggmann, Philip; Roth, Jan A; Bernasconi, Enos; Calmy, Alexandra; Cavassini, Matthias; Bregenzer, Andrea; Böni, Jürg; Yerly, Sabine; Klimkait, Thomas; Perreau, Matthieu; Walti, Laura N; Günthar... Journal: Antiviral therapy Issue: Volume 25:Issue 1(2020) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. HIV Transmission Chains Exhibit Greater HLA-B Homogeneity Than Randomly Expected. (15th August 2019) Authors: Nguyen, Huyen; Thorball, Christian W.; Fellay, Jacques; Böni, Jürg; Yerly, Sabine; Perreau, Matthieu; Klimkait, Thomas; Kusejko, Katharina; Bachmann, Nadine; Chaudron, Sandra E.; Paioni, Paolo; Thurnheer, Maria C.; Battegay, Manuel; Cavassini, Matthias; Vernazza, Pietro; Bernasconi, Enos; Günthar... Journal: Journal of acquired immune deficiency syndromes Issue: Volume 81:Number 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. HIV-1 Drug Resistance Among Ugandan Adults Attending an Urban Out-Patient Clinic. (15th August 2018) Authors: von Braun, Amrei; Sekaggya-Wiltshire, Christine; Bachmann, Nadine; Ssemwanga, Deogratius; Scherrer, Alexandra U.; Nanyonjo, Maria; Kapaata, Anne; Kaleebu, Pontiano; Günthard, Huldrych F.; Castelnuovo, Barbara; Fehr, Jan; Kambugu, Andrew Journal: Journal of acquired immune deficiency syndromes Issue: Volume 78:Number 5(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment. (1st December 2020) Authors: Thorball, Christian W.; Borghesi, Alessandro; Bachmann, Nadine; Von Siebenthal, Chantal; Vongrad, Valentina; Turk, Teja; Neumann, Kathrin; Beerenwinkel, Niko; Bogojeska, Jasmina; Roth, Volker; Kok, Yik Lim; Parbhoo, Sonali; Wieser, Mario; Böni, Jürg; Perreau, Matthieu; Klimkait, Thomas; Yerly, Sa... Journal: Journal of acquired immune deficiency syndromes Issue: Volume 85:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Importance of routine viral load monitoring: higher levels of resistance at ART failure in Uganda and Lesotho compared with Switzerland. (21st November 2018) Authors: Bachmann, Nadine; von Braun, Amrei; Labhardt, Niklaus D; Kadelka, Claus; Günthard, Huldrych F; Sekaggya-Wiltshire, Christine; Castelnuovo, Barbara; Kambugu, Andrew; Lejone, Thabo I; Böni, Jürg; Yerly, Sabine; Perreau, Matthieu; Klimkait, Thomas; Kouyos, Roger D; Fehr, Jan Journal: Journal of antimicrobial chemotherapy Issue: Volume 74:Number 2(2019) Page Start: 468 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Issue 12 (1st November 2020) Authors: Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari‐Anne M.; Crowley, Suzanne; Sikiric, Alma; Barøy, Tuva; Käsmann‐Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine... Journal: Human mutation Issue: Volume 41:Issue 12(2020) Page Start: 2179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith–Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis. Issue 3 (21st September 2016) Authors: Bachmann, Nadine; Crazzolara, Roman; Bohne, Florian; Kotzot, Dieter; Maurer, Kathrin; Enklaar, Thorsten; Prawitt, Dirk; Bergmann, Carsten Journal: Pediatric blood & cancer Issue: Volume 64:Issue 3(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗