1. MtDNA copy number associated with age of onset in familial amyloid polyneuropathy. Issue 3 (10th October 2017) Authors: Santos, Diana; Santos, Maria João; Alves-Ferreira, Miguel; Coelho, Teresa; Sequeiros, Jorge; Alonso, Isabel; Oliveira, Pedro; Sousa, Alda; Lemos, Carolina; Grazina, Manuela Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 3(2018) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. How to identify the genetic basis of gastrointestinal and liver diseases?. (1st May 2003) Authors: Ferenci, P Journal: Gut Issue: Volume 52(2003)Supplement 2 Page Start: ii6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Concepts of genetics : William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino ; with contributions by Darrell Killian.: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino ; with contributions by Darrell Killian. ([2016]) Authors: Klug, William S; Cummings, Michael R; Spencer, Charlotte A; Palladino, Michael A; Killian, Darrell Record Type: Book Extent: 1 online resource (889 pages), illustrations View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Homozygous variants in SYCP2L cause premature ovarian insufficiency. Issue 3 (17th April 2020) Authors: He, Wen-Bin; Tan, Chen; Zhang, Ya-Xin; Meng, Lan-Lan; Gong, Fei; Lu, Guang-Xiu; Lin, Ge; Du, Juan; Tan, Yue-Qiu Journal: Journal of medical genetics Issue: Volume 58:Issue 3(2021) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Editorial: JMG in 2021. Issue 2 (13th January 2021) Authors: Dorkins, Huw Journal: Journal of medical genetics Issue: Volume 58:Issue 2(2021) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature. Issue 11 (13th October 2020) Authors: Kang, Eungu; Kang, Minji; Ju, Younghee; Lee, Sang-Joon; Lee, Yong-Seok; Woo, Dong-Cheol; Sung, Young Hoon; Baek, In-Jeoung; Shim, Woo Hyun; Son, Woo-Chan; Choi, In Hee; Seo, Eul-Ju; Yoo, Han-Wook; Han, Yong-Mahn; Lee, Beom Hee Journal: Journal of medical genetics Issue: Volume 58:Issue 11(2021) Page Start: 767 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗