1. 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region. (22nd July 2015) Authors: Mc Cormack, Adrian; Sharpe, Cynthia; Gregersen, Nerine; Smith, Warwick; Hayes, Ian; George, Alice M.; Love, Donald R. Other Names: Morrison Patrick Academic Editor. Journal: Case reports in genetics Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene. (22nd June 2014) Authors: Diniz, Gulden; Tosun Yildirim, Hulya; Gokben, Sarenur; Serdaroglu, Gul; Hazan, Filiz; Yararbas, Kanay; Tukun, Ajlan Other Names: Morrison Patrick 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. False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13. (22nd February 2016) Authors: Cao, Yang; Hoppman, Nicole L.; Kerr, Sarah E.; Sattler, Christopher A.; Borowski, Kristi S.; Wick, Myra J.; Highsmith, W. Edward; Aypar, Umut Other Names: Morrison Patrick Academic Editor. Journal: Case reports in genetics Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Further Evidence That the CFTR Variant c.2620-6T>C Is Benign. (9th January 2017) Authors: Wallerstein, Violet I.; Wallerstein, Robert Other Names: Morrison Patrick Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect. (5th May 2015) Authors: Mutlu-Albayrak, Hatice; Bene, Judit; Oflaz, Mehmet Burhan; Tanyalçın, Tijen; Çaksen, Hüseyin; Melegh, Bela Other Names: Morrison Patrick Academic Editor. Journal: Case reports in genetics Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype. (25th December 2014) Authors: Mbuyi-Musanzayi, Sébastien; Lubala Kasole, Toni; Lumaka, Aimé; Kayembe Kitenge, Tony; Kabamba Ngombe, Leon; Kalenga Muenze, Prosper; Lukusa Tshilobo, Prosper; Tshilombo Katombe, François; Banza Lubaba Nkulu, Célestin; Devriendt, Koenraad Other Names: Morrison Patrick 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. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. (30th March 2016) Authors: Georgiou, Theodoros; Mavrikiou, Gavriella; Alexandrou, Angelos; Spanou-Aristidou, Elena; Savva, Isavella; Christodoulides, Theodoros; Krasia, Maria; Christophidou-Anastasiadou, Violetta; Sismani, Carolina; Drousiotou, Anthi; Tanteles, George A. Other Names: Morrison Patrick Academic Editor. Journal: Case reports in genetics Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. (20th November 2014) Authors: Cho, Sun-Mi; Hong, Bo Young; Kim, Yoonjung; Lee, Sang Guk; Yang, Jin-Young; Kim, Juwon; Lee, Kyung-A Other Names: Morrison Patrick 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) ↗
9. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. (23rd March 2015) Authors: Jerath, Nivedita U.; Crockett, Cameron D.; Moore, Steven A.; Shy, Michael E.; Weihl, Conrad C.; Chou, Tsui-Fen; Grider, Tiffany; Gonzalez, Michael A.; Zuchner, Stephan; Swenson, Andrea Other Names: Morrison Patrick Academic Editor. Journal: Case reports in genetics Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. (23rd March 2015) Authors: Jerath, Nivedita U.; Crockett, Cameron D.; Moore, Steven A.; Shy, Michael E.; Weihl, Conrad C.; Chou, Tsui-Fen; Grider, Tiffany; Gonzalez, Michael A.; Zuchner, Stephan; Swenson, Andrea Other Names: Morrison Patrick Academic Editor. Journal: Case reports in genetics Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗