1. Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren's Syndrome: The First Case Report from India. (16th January 2013) Authors: Sanap, Rupesh R.; Athalye, Arundhati S.; Madon, Prochi F.; Dhabhar, Boman N.; Sute, Mahendra B.; Mahabale, Amit A.; Warang, Dhanashree J.; Parikh, Firuza R. Other Names: Chae S.-C. Academic Editor.; Shen G.-Q. Academic Editor. Journal: Case reports in genetics Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. (12th June 2011) Authors: Fredheim, Siri; Svensson, Jannet; Pørksen, Sven; Hansen, Lars; Hansen, Torben; Pedersen, Oluf Borbye; Mortensen, Henrik Bindesbøl; Barbetti, Fabrizio; Nielsen, Lotte Brøndum Other Names: Chae S.-C. Academic Editor.; Ishiguro H. Academic Editor.; Shotelersuk V. Academic Editor. Journal: Case reports in genetics Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes. (16th May 2013) Authors: Malvestiti, Francesca; Benedicenti, Francesco; De Toffol, Simona; Chinetti, Sara; Höller, Adelheid; Grimi, Beatrice; Fichtel, Gertrud; Braghetto, Monica; Agrati, Cristina; Bonaparte, Eleonora; Maggi, Federico; Simoni, Giuseppe; Grati, Francesca Romana Other Names: Chae S.-C. Academic Editor.; Cheng C.-W. Academic Editor.; Cotter P. D. Academic Editor.; Fenger M. Academic Editor.; Morrison P. Academic Editor.; Vogt G. Academic Editor.; Wang X. Academic Editor. Journal: Case reports in genetics Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency. (15th April 2013) Authors: Janicki, Piotr K.; Vaida, Sonia; AL-Mondhiry, Hamid A. B. Other Names: Chae S.-C. Academic Editor.; Cotter P. D. Academic Editor.; Sazci A. Academic Editor.; Yapijakis C. Academic Editor. Journal: Case reports in genetics Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report. (23rd August 2012) Authors: Chora, Joana Rita; Simões-Teixeira, Helena; Matos, Tiago Daniel; Martins, Jorge Humberto; Alves, Marisa; Ferreira, Raquel; Silva, Luís; Ribeiro, Carlos; Fialho, Graça; Caria, Helena Other Names: Chae S.-C. Academic Editor.; DeWan A. Academic Editor. Journal: Case reports in genetics Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗