1. Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset. (2nd October 2018) Authors: Andreou, Savanna; Panayiotou, Elena; Michailidou, Kyriaki; Pirpa, Panayiota; Hadjisavvas, Andreas; El Salloukh, Adonis; Barnes, Daniel; Antoniou, Antonis; Agathangelou, Petros; Papastavrou, Katia; Christodoulou, Kyproula; Tanteles, George A.; Kyriakides, Theodoros Journal: Amyloid Issue: Volume 25:Number 4(2018) Page Start: 220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Issue 11 (16th September 2020) Authors: MacKenzie, Katherine C.; de Graaf, Bianca M.; Syrimis, Andreas; Zhao, Yuying; Brosens, Erwin; Mancini, Grazia M. S.; Schot, Rachel; Halley, Dicky; Wilke, Martina; Vøllo, Arve; Flinter, Frances; Green, Andrew; Mansour, Sahar; Pilch, Jacek; Stark, Zornitza; Zamba‐Papanicolaou, Eleni; Christophidou‐... Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1906 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Hb A2 Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent. Issue 5 (28th May 2017) Authors: Lederer, Carsten W.; Pavlou, Eleni; Tanteles, George A.; Evangelidou, Paola; Sismani, Carolina; Kolnagou, Annita; Sitarou, Maria; Christou, Soteroulla; Hadjigavriel, Michael; Kleanthous, Marina Journal: Hematology Issue: Volume 22:Issue 5(2017) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports. Issue 9 (29th June 2020) Authors: Keravnou, Anna; Bashiardes, Evy; Barberis, Vassilis; Michailidou, Kyriaki; Soteriou, Marinos; Tanteles, George A.; Cariolou, Marios A. Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. Issue 3 (5th January 2016) Authors: Jones, Gabriela E.; Robertson, Lisa; Maniyar, Amit; Shammas, Christos; Phelan, Marie M.; Vasudevan, Pradeep C.; Tanteles, George A. Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 754 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3. (29th July 2015) Authors: Tanteles, George A.; Nikolaou, Elpiniki; Christou, Yiolanda; Alexandrou, Angelos; Evangelidou, Paola; Christophidou-Anastasiadou, Violetta; Sismani, Carolina; Papacostas, Savvas S. Other Names: Suri Mohnish 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) ↗
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. Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome. Issue 3 (July 2015) Authors: Tanteles, George A.; Michaelidou, Sofia; Loukianou, Eleni; Christophidou-Anastasiadou, Violetta; Kleopa, Kleopas A. Journal: Clinical dysmorphology Issue: Volume 24:Issue 3(2015:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome. Issue 3 (July 2015) Authors: Tanteles, George A.; Michaelidou, Sofia; Loukianou, Eleni; Christophidou-Anastasiadou, Violetta; Kleopa, Kleopas A. Journal: Clinical dysmorphology Issue: Volume 24:Issue 3(2015:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. Issue 2 (April 2017) Authors: Tanteles, George A.; Nicolaou, Nayia; Syrimis, Andreas; Metaxa, Rafaella; Nicolaou, Michael; Christophidou-Anastasiadou, Violetta; Skordis, Nicos Journal: Clinical dysmorphology Issue: Volume 26:Issue 2(2017:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗