1. A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype. (10th February 2014) Authors: Fostira, Florentia; Tsoukalas, Nikolaos; Konstantopoulou, Irene; Georgoulias, Vassilios; Christophyllakis, Charalambos; Yannoukakos, Drakoulis Other Names: Bunyan D. J. Academic Editor.; Ennis S. Academic Editor.; Hsu F.-C. Academic Editor.; Kibriya M. G. Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation. (17th May 2012) Authors: Baruffi, Marcelo Razera; de Souza, Deise Helena; Bicudo da Silva, Rosana Aparecida; Ramos, Ester Silveira; Moretti-Ferreira, Danilo Other Names: Baumer A. Academic Editor.; Bunyan D. J. Academic Editor.; López Ginés C. 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) ↗
3. Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion. (1st July 2013) Authors: Tam, Allison; Lee, Kit Shan; Lee, Sansan; Burkhalter, William; Pascua, Lucio U.; Slavin, Thomas P. Other Names: Bunyan D. J. Academic Editor.; Cheng C.-W. Academic Editor.; Cotter P. D. Academic Editor.; DeWan A. 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. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations. (25th July 2013) Authors: Sirisena, Nirmala D.; Wijetunge, U. Kalpani S.; de Silva, Ramya; Dissanayake, Vajira H. W. Other Names: Bunyan D. J. Academic Editor.; Iovannisci D. M. Academic Editor.; Sazci A. Academic Editor.; Vogt G. 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. Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes. (8th February 2012) Authors: Szvetko, Attila; Martin, Nicole; Joy, Chris; Hayward, Andrea; Watson, Bob; Cary, Andrew; Withers, Stephen Other Names: Bunyan D. J. Academic Editor.; López Ginés C. 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) ↗
6. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts. (24th June 2013) Authors: Wong, D.; Johnson, S. M.; Young, D.; Iwamoto, L.; Sood, S.; Slavin, T. P. Other Names: Bunyan D. J. Academic Editor.; Cotter P. D. 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) ↗
7. Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome. (20th December 2012) Authors: Sheth, Frenny; Gohel, Naresh; Liehr, Thomas; Akinde, Olakanmi; Desai, Manisha; Adeteye, Olawaleye; Sheth, Jayesh Other Names: Bunyan D. J. Academic Editor.; Ergul E. Academic Editor.; Fenger M. 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) ↗
8. Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm. (30th July 2013) Authors: Cisternino, Mariangela; Della Mina, Erika; Losa, Laura; Madè, Alexandra; Rossetti, Giulia; Bassi, Lorenzo Andrea; Pieri, Giovanni; Bayindir, Baran; Messa, Jole; Zuffardi, Orsetta; Ciccone, Roberto Other Names: Bunyan D. J. Academic Editor.; Cheng C.-W. Academic Editor.; Morrison P. Academic Editor.; Velinov M. 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) ↗
9. Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML. (22nd February 2014) Authors: Aydin, Cigdem; Cetin, Zafer; Salim, Ozan; Yucel, Orhan Kemal; Undar, Levent; Berker Karauzum, Sibel Other Names: Bunyan D. J. Academic Editor.; Cotter P. D. Academic Editor.; Sazci A. Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency. (19th January 2014) Authors: Vavlukis, M.; Eftimov, A.; Zafirovska, P.; Caparovska, E.; Pocesta, B.; Kedev, S.; Dimovski, A. J. Other Names: Bunyan D. J. Academic Editor.; Cotter P. D. Academic Editor.; Julier C. Academic Editor.; Melegh B. Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗