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by Parsons, Michael T and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadaló, Lidia and Aalfs, Cora M and Agata, Simona and Aittomäki, Kristiina and Alducci, Elisa and Alonso‐Cerezo, María Concepción and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmaña, Judith and Barbieri, Elena and Bartram, Claus R and Blanco, Ana and Blümcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Åke and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A and Calvello, Mariarosaria and Capone, Gabriele L and Caputo, Sandrine M and Carnevali, Ileana and Carrasco, Estela and Caux‐Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M and Concolino, Paola and Cops, Elisa J and Cortesi, Laura and Couch, Fergus J and Darder, Esther and Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesús and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M and Dutrannoy, Véronique and Eccles, Diana M and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D and Galvao, Henrique C.R and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne‐Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gómez, Carolina and Garcia, Encarna B and González, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri‐Gonzaga, Aliana and Guillaud‐Bataille, Marine and Gutiérrez‐Enríquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas V.O and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Hübbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A and Janssen, Linda A.M and Jeschke, Udo and Kaulfuß, Silke and ... and KConFab Investigators
Human Mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes.... 
uncertain significance | clinical | quantitative | variant | multifactorial | BRCA1 | BRCA2 | classification | RISKS | GUIDELINES | SEQUENCE VARIANTS | SPLICING ANALYSIS | INTEGRATED EVALUATION | BREAST-CANCER | FUNCTIONAL ASSAYS | GENETICS & HEREDITY | CLINGEN | OVARIAN | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Life Sciences | Human health and pathology | Special
Journal Article
by Capper, David and Jones, David T. W and Sill, Martin and Hovestadt, Volker and Schrimpf, Daniel and Sturm, Dominik and Koelsche, Christian and Sahm, Felix and Chavez, Lukas and Reuss, David E and Kratz, Annekathrin and Wefers, Annika K and Huang, Kristin and Pajtler, Kristian W and Schweizer, Leonille and Stichel, Damian and Olar, Adriana and Engel, Nils W and Lindenberg, Kerstin and Harter, Patrick N and Braczynski, Anne K and Plate, Karl H and Dohmen, Hildegard and Garvalov, Boyan K and Coras, Roland and Hölsken, Annett and Hewer, Ekkehard and Bewerunge-Hudler, Melanie and Schick, Matthias and Fischer, Roger and Beschorner, Rudi and Schittenhelm, Jens and Staszewski, Ori and Wani, Khalida and Varlet, Pascale and Pages, Melanie and Temming, Petra and Lohmann, Dietmar and Selt, Florian and Witt, Hendrik and Milde, Till and Witt, Olaf and Aronica, Eleonora and Giangaspero, Felice and Rushing, Elisabeth and Scheurlen, Wolfram and Geisenberger, Christoph and Rodriguez, Fausto J and Becker, Albert and Preusser, Matthias and Haberler, Christine and Bjerkvig, Rolf and Cryan, Jane and Farrell, Michael and Deckert, Martina and Hench, Jürgen and Frank, Stephan and Serrano, Jonathan and Kannan, Kasthuri and Tsirigos, Aristotelis and Brück, Wolfgang and Hofer, Silvia and Brehmer, Stefanie and Seiz-Rosenhagen, Marcel and Hänggi, Daniel and Hans, Volkmar and Rozsnoki, Stephanie and Hansford, Jordan R and Kohlhof, Patricia and Kristensen, Bjarne W and Lechner, Matt and Lopes, Beatriz and Mawrin, Christian and Ketter, Ralf and Kulozik, Andreas and Khatib, Ziad and Heppner, Frank and Koch, Arend and Jouvet, Anne and Keohane, Catherine and Mühleisen, Helmut and Mueller, Wolf and Pohl, Ute and Prinz, Marco and Benner, Axel and Zapatka, Marc and Gottardo, Nicholas G and Driever, Pablo Hernáiz and Kramm, Christof M and Müller, Hermann L and Rutkowski, Stefan and Von Hoff, Katja and Frühwald, Michael C and Gnekow, Astrid and Fleischhack, Gudrun and Tippelt, Stephan and Calaminus, Gabriele and Monoranu, Camelia-Maria and Perry, Arie and Jones, Chris and ...
Nature, ISSN 0028-0836, 03/2018, Volume 555, Issue 7697, pp. 469 - 474
Journal Article
Optics Letters, ISSN 0146-9592, 08/2018, Volume 43, Issue 15, p. 3522
Residual p-type doping from carbon has been identified as the root cause of excess absorption losses in (Al)GaAs/AlGaAs Bragg mirrors for high-finesse optical... 
Gallium arsenide | Vapor phases | Doping | Metalorganic vapor phase epitaxy | Carbon | Multilayers | Aluminum gallium arsenides | Reduction | Vapor phase epitaxy | Absorption | Compensation | Molecular beam epitaxy | Holes | Epitaxial growth
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 06/2014, Volume 6, Issue 6, pp. 744 - 759
Fibroblast growth factor‐23 ( FGF 23) is a bone‐derived hormone regulating renal phosphate reabsorption and vitamin D synthesis in renal proximal tubules.... 
heart hypertrophy | blood pressure | aldosterone | sodium homeostasis | fibroblast growth factor‐23 | Sodium homeostasis | Blood pressure | Fibroblast growth factor-23 | Aldosterone | Heart hypertrophy | KIDNEY-DISEASE | MEDICINE, RESEARCH & EXPERIMENTAL | X-LINKED HYPOPHOSPHATEMIA | D METABOLISM | VITAMIN-D-RECEPTOR | ANGIOTENSIN-II | DEFICIENT MICE | fibroblast growth factor-23 | GLUCOSE-HOMEOSTASIS | NA+-CL-COTRANSPORTER | SIGNALING PATHWAY | CHLORIDE COTRANSPORTER | Blood Pressure | Up-Regulation | Humans | Fibroblast Growth Factors - genetics | Hypertension - drug therapy | Male | Sodium - metabolism | Sodium Chloride Symporter Inhibitors - therapeutic use | Fibroblast Growth Factors - metabolism | Kidney - metabolism | Chlorothiazide - therapeutic use | Fibroblast Growth Factors - administration & dosage | Gene Deletion | Solute Carrier Family 12, Member 3 - genetics | Hypertension - genetics | Recombinant Proteins - metabolism | Signal Transduction | Mice, Inbred C57BL | Recombinant Proteins - genetics | Antihypertensive Agents - therapeutic use | Recombinant Proteins - administration & dosage | Hypertension - metabolism | Animals | Glucuronidase - genetics | Mice | Solute Carrier Family 12, Member 3 - metabolism | Cardiomegaly - metabolism | Hypertension | Heart | Phosphates | Corticosteroids | Vitamin D | Chronic kidney failure | Analysis | Calcifediol | Fibroblast growth factors | Alfacalcidol
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 8/2018, Volume 136, Issue 2, pp. 273 - 291
Journal Article