1. Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. (10th December 2012) Authors: Mende, Rose H.; Drake, David P.; Olomi, Raimos M.; Hamel, Ben C. J. Other Names: Morrison P. Academic Editor.; Suri 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) ↗
2. First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7. (21st February 2013) Authors: Henderson, Lindsay B.; Corson, Virginia L.; Saul, Daniel O.; Anderson, Cynthia; Millard, Sarah; Batista, Denise A. S.; Blakemore, Karin J.; DeScipio, Cheryl Other Names: Chikri M. Academic Editor.; Morrison P. 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) ↗
3. 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) ↗
4. Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. (4th March 2014) Authors: Domingues, Sara; Isidoro, Lara; Rocha, Dalila; Sales Marques, Jorge Other Names: Cotter P. D. Academic Editor.; Morrison P. 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) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗