1. A Case of Premature Ovarian Failure in a 33-Year-Old Woman. (29th January 2013) Authors: Colao, Emma; Granata, Teresa; Vismara, Marco F. M.; Bombardiere, Francesco; Nocera, Donatella; Luciano, Elisa; Perrotti, Nicola; Malatesta, Paola Other Names: Fenger M. Academic Editor.; Saccucci P. Academic Editor.; Slavotinek A. 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) ↗
2. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker. (17th March 2014) Authors: Mazzaschi, Roberto L. P.; Taylor, Juliet; Robertson, Stephen P.; Love, Donald R.; George, Alice M. Other Names: Fenger M. Academic Editor.; Vogt G. Academic Editor.; Wang X. 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) ↗
3. Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?. (14th January 2013) Authors: White, M.; Conroy, J.; Bullman, H.; Lever, M.; Daly, E.; Betts, D. R.; Cody, D.; Crolla, John A.; Lynch, S. A. Other Names: DeWan A. Academic Editor.; Fenger 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) ↗
4. 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) ↗
5. Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient. (7th July 2013) Authors: Taboas, Melisa; Fernández, Cecilia; Belli, Susana; Buzzalino, Noemi; Alba, Liliana; Dain, Liliana Other Names: Fenger M. Academic Editor.; Grant S. F. 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) ↗
6. Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. (3rd March 2014) Authors: Fitzgerald, Kristi K.; Bhat, Abdul Majeed; Conard, Katrina; Hyland, James; Pizarro, Christian Other Names: Cheng C.-W. Academic Editor.; Fenger M. Academic Editor.; Huang C.-S. Academic Editor.; Morrison P. Academic Editor.; Vogt 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) ↗
7. Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood. (15th September 2013) Authors: Shackelford, Amy L.; Conlin, Laura K.; Hummel, Marybeth; Spinner, Nancy B.; Wenger, Sharon L. Other Names: Fenger M. 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) ↗
8. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism. (13th January 2013) Authors: Lévy, Jonathan; Jouannic, Jean-Marie; Saada, Julien; Dhombres, Ferdinand; Siffroi, Jean-Pierre; Portnoï, Marie-France Other Names: Fenger M. Academic Editor.; Morrison P. 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. 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) ↗