1. Challenges of diagnostic exome sequencing in an inbred founder population. Issue 2 (22nd April 2013) Authors: Azmanov, Dimitar N.; Chamova, Teodora; Tankard, Rick; Gelev, Vladimir; Bynevelt, Michael; Florez, Laura; Tzoneva, Dochka; Zlatareva, Dora; Guergueltcheva, Velina; Bahlo, Melanie; Tournev, Ivailo; Kalaydjieva, Luba Journal: Molecular genetics & genomic medicine Issue: Volume 1:Issue 2(2013:Jul.) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement. Issue 10 (5th July 2021) Authors: Brereton, Rebecca E.; Nickerson, Sarah L.; Woodward, Karen J.; Edwards, Tracey; Sivamoorthy, Soruba; Ramos Vasques Walters, Fabiana; Chabros, Vicki; Marchin, Vanessa; Grumball, Tanya; Kennedy, Dagmara; Uzaraga, Joan; Peverall, Joanne; Arscott, Gillian; Beilby, John; Choong, Catherine S.; Townshen... Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Issue 6 (15th March 2015) Authors: Kancheva, Dahlia; Chamova, Teodora; Guergueltcheva, Velina; Mitev, Vanio; Azmanov, Dimitar N.; Kalaydjieva, Luba; Tournev, Ivailo; Jordanova, Albena Journal: Movement disorders Issue: Volume 30:Issue 6(2015) Page Start: 854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Reply: Mutations in TUBB4A and spastic paraplegia. Issue 13 (19th October 2015) Authors: Chamova, Teodora; Kancheva, Dahlia; Guergueltcheva, Velina; Mitev, Vanio; Azmanov, Dimitar N.; Kalaydjieva, Luba; Jordanova, Albena; Tournev, Ivailo Journal: Movement disorders Issue: Volume 30:Issue 13(2015) Page Start: 1858 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. THE CHANGING LANDSCAPE OF CHROMOSOME MARKERS. (February 2015) Authors: Azmanov, Dimitar N.; Ngo, Con; Sivamoorty, Soruba; Britton, Vikki; Peverall, Joanne; Woodward, Karen; Murch, Ashleigh; Ravine, David; Mina, Kym Journal: Pathology Issue: Volume 47(2015)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗