41. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Issue 2 (20th January 2015) Authors: Spier, Isabel; Holzapfel, Stefanie; Altmüller, Janine; Zhao, Bixiao; Horpaopan, Sukanya; Vogt, Stefanie; Chen, Sophia; Morak, Monika; Raeder, Susanne; Kayser, Katrin; Stienen, Dietlinde; Adam, Ronja; Nürnberg, Peter; Plotz, Guido; Holinski‐Feder, Elke; Lifton, Richard P.; Thiele, Holger; Hoffmann... Journal: International journal of cancer Issue: Volume 137:Issue 2(2015:Jul. 15) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
42. Gain‐of‐function HCN2 variants in genetic epilepsy. Issue 2 (13th November 2017) Authors: Li, Melody; Maljevic, Snezana; Phillips, A. Marie; Petrovski, Slave; Hildebrand, Michael S.; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L.; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingr... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
43. Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Issue 10 (October 2014) Authors: Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Brémond‐Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Hérent, Didier; Nürnberg, Peter; Roméo, Bernard; Konrad, Kerstin; Mathieu‐Dramard, Michèle; Oldenburg... Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
44. Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Issue 12 (December 2014) Authors: Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Brémond‐Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Hérent, Didier; Nürnberg, Peter; Roméo, Bernard; Konrad, Kerstin; Mathieu‐Dramard, Michèle; Oldenburg... Journal: Human mutation Issue: Volume 35:Issue 12(2014:Dec.) Page Start: 1542 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
45. Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. (9th March 2018) Authors: Hauke, Jan; Horvath, Judit; Groß, Eva; Gehrig, Andrea; Honisch, Ellen; Hackmann, Karl; Schmidt, Gunnar; Arnold, Norbert; Faust, Ulrike; Sutter, Christian; Hentschel, Julia; Wang‐Gohrke, Shan; Smogavec, Mateja; Weber, Bernhard H. F.; Weber‐Lassalle, Nana; Weber‐Lassalle, Konstantin; Borde, Julika;... Journal: Cancer medicine Issue: Volume 7:Number 4(2018:Apr.) Page Start: 1349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
46. Genetic background of high blood pressure is associated with reduced mortality in premature neonates. Issue 2 (14th June 2019) Authors: Göpel, Wolfgang; Müller, Mirja; Rabe, Heike; Borgmann, Johannes; Rausch, Tanja K; Faust, Kirstin; Kribs, Angela; Dötsch, Jörg; Ellinghaus, David; Härtel, Christoph; Roll, Claudia; Szabo, Miklos; Nürnberg, Peter; Franke, Andre; König, Inke R; Turner, Mark A; Herting, Egbert Journal: Archives of disease in childhood Issue: Volume 105:Issue 2(2020) Page Start: 184 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
47. Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research. Issue 1 (1st June 2015) Authors: Widdig, Anja; Kessler, Matthew J.; Bercovitch, Fred B.; Berard, John D.; Duggleby, Christine; Nürnberg, Peter; Rawlins, Richard G.; Sauermann, Ulrike; Wang, Qian; Krawczak, Michael; Schmidtke, Jörg Journal: American journal of primatology Issue: Volume 78:Issue 1(2016:Jan.) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
48. Genomic basis of syndromic short stature in an Algerian patient cohort. Issue 2 (13th October 2021) Authors: Moosa, Shahida; Chentli, Farida; Altmüller, Janine; Bögershausen, Nina; Nürnberg, Peter; Yigit, Gökhan; Li, Yun; Wollnik, Bernd Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 606 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
49. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Issue 4 (3rd March 2021) Authors: Keller, Natalie; Paketci, Cem; Altmueller, Janine; Fuhrmann, Nico; Wunderlich, Gilbert; Schrank, Bertold; Unver, Olcay; Yilmaz, Sanem; Boostani, Reza; Karimiani, Ehsan Ghayoor; Motameny, Susanne; Thiele, Holger; Nürnberg, Peter; Maroofian, Reza; Yis, Uluc; Wirth, Brunhilde; Karakaya, Mert Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
50. Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. Issue 2 (5th November 2020) Authors: Sprute, Rosanne; Jergas, Hannah; Ölmez, Akgün; Alawbathani, Salem; Karasoy, Hatice; Dafsari, Hormos Salimi; Becker, Kerstin; Daimagüler, Hülya‐Sevcan; Nürnberg, Peter; Muntoni, Francesco; Topaloglu, Haluk; Uyanik, Gökhan; Cirak, Sebahattin Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗