1. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Issue 12 (3rd October 2013) Authors: Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wie... Journal: Journal of medical genetics Issue: Volume 50:Issue 12(2013) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic SEMA3A defects cause a novel type of syndromic short stature. Issue 11 (3rd October 2013) Authors: Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T.; Ekici, Arif B.; Reis, André; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Issue 4 (7th February 2017) Authors: Ripperger, Tim; Bielack, Stefan S.; Borkhardt, Arndt; Brecht, Ines B.; Burkhardt, Birgit; Calaminus, Gabriele; Debatin, Klaus‐Michael; Deubzer, Hedwig; Dirksen, Uta; Eckert, Cornelia; Eggert, Angelika; Erlacher, Miriam; Fleischhack, Gudrun; Frühwald, Michael C.; Gnekow, Astrid; Goehring, Gudrun; ... Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot. Issue 5 (30th November 2009) Authors: Rauch, Ralf; Hofbeck, Michael; Zweier, Christiane; Koch, Andreas; Zink, Stefan; Trautmann, Udo; Hoyer, Juliane; Kaulitz, Renate; Singer, Helmut; Rauch, Anita Journal: Journal of medical genetics Issue: Volume 47:Issue 5(2010) Page Start: 321 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer. (April 2017) Authors: Schrauder, Michael G.; Brunel-Geuder, Lisa; Häberle, Lothar; Wunderle, Marius; Hoyer, Juliane; Reis, André; Schulz-Wendtland, Rüdiger; Beckmann, Matthias W.; Lux, Michael P. Journal: Breast Issue: Volume 32(2017) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Issue 12 (20th July 2016) Authors: Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, C... Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Exome Pool-Seq in neurodevelopmental disorders. (December 2017) Authors: Popp, Bernt; Ekici, Arif; Thiel, Christian; Hoyer, Juliane; Wiesener, Antje; Kraus, Cornelia; Reis, André; Zweier, Christiane Journal: European journal of human genetics Issue: Volume 25:Number 12(2017) Page Start: 1364 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome. Issue 3 (5th August 2014) Authors: Zweier, Christiane; Rittinger, Olaf; Bader, Ingrid; Berland, Siren; Cole, Trevor; Degenhardt, Franziska; Di Donato, Nataliya; Graul‐Neumann, Luitgard; Hoyer, Juliane; Lynch, Sally Ann; Vlasak, Ingrid; Wieczorek, Dagmar; Kosho, Tomoki; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 166:Issue 3(2014) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. Issue 1 (23rd September 2016) Authors: Kraus, Cornelia; Hoyer, Juliane; Vasileiou, Georgia; Wunderle, Marius; Lux, Michael P.; Fasching, Peter A.; Krumbiegel, Mandy; Uebe, Steffen; Reuter, Miriam; Beckmann, Matthias W.; Reis, André Journal: International journal of cancer Issue: Volume 140:Issue 1(2017:Jan. 01) Page Start: 95 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗