1. Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. (18th April 2018) Authors: Cundy, Tim; Dray, Michael; Delahunt, John; Hald, Jannie Dahl; Langdahl, Bente; Li, Chumei; Szybowska, Marta; Mohammed, Shehla; Duncan, Emma L; McInerney‐Leo, Aideen M; Wheeler, Patricia G; Roschger, Paul; Klaushofer, Klaus; Rai, Jyoti; Weis, MaryAnn; Eyre, David; Schwarze, Ulrike; Byers, Peter H Journal: Journal of bone and mineral research Issue: Volume 33:Number 7(2018) Page Start: 1260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations. (4th December 2015) Authors: Lowther, Chelsea; Speevak, Marsha; Armour, Christine; Goh, Elaine; Graham, Gail; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata JM; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Robert; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A; Prasad, Chitra; Dick, Paul T; Hussain, Asmaa S; Gaz... Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MG-121 Complexity of phenotypes of females with unbalanced x-autosomal translocations exemplified by a case with 46, x, der (x)t (x;16)(p11.2;p13.2) karyotype. (4th December 2015) Authors: Grafodatskaya, Daria; Dell, Edith; Li, Chumei; McCready, Elizabeth Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Hesperetin Nanoparticle Targeting Neutrophils for Enhanced TBI Therapy. (8th August 2022) Authors: Yao, Kai; Mu, Qingchun; Zhang, Yufei; Cheng, Qian; Cheng, Xiaozhi; Liu, Xiaojing; Luo, Chunmei; Li, Chumei; Cai, Shuxia; Luo, Zhicheng; Zhu, Xiulong; Zhang, Xiangtong; Cui, Liao; Huang, Chunming; Tang, Longguang Journal: Advanced functional materials Issue: Volume 32:Number 43(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hesperetin Nanoparticle Targeting Neutrophils for Enhanced TBI Therapy (Adv. Funct. Mater. 43/2022). (25th October 2022) Authors: Yao, Kai; Mu, Qingchun; Zhang, Yufei; Cheng, Qian; Cheng, Xiaozhi; Liu, Xiaojing; Luo, Chunmei; Li, Chumei; Cai, Shuxia; Luo, Zhicheng; Zhu, Xiulong; Zhang, Xiangtong; Cui, Liao; Huang, Chunming; Tang, Longguang Journal: Advanced functional materials Issue: Volume 32:Number 43(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Issue 8 (27th May 2021) Authors: Bowles, Bradley; Ferrer, Alejandro; Nishimura, Carla J.; Pinto e Vairo, Filippo; Rey, Tristan; Leheup, Bruno; Sullivan, Jennifer; Schoch, Kelly; Stong, Nicholas; Agolini, Emanuele; Cocciadiferro, Dario; Williams, Abigail; Cummings, Alex; Loddo, Sara; Genovese, Silvia; Roadhouse, Chelsea; McWalter... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. Issue 6 (20th April 2011) Authors: Slavotinek, Anne M; Baranzini, Sergio E; Schanze, Denny; Labelle-Dumais, Cassandre; Short, Kieran M; Chao, Ryan; Yahyavi, Mani; Bijlsma, Emilia K; Chu, Catherine; Musone, Stacey; Wheatley, Ashleigh; Kwok, Pui-Yan; Marles, Sandra; Fryns, Jean-Pierre; Maga, A Murat; Hassan, Mohamed G; Gould, Dougla... Journal: Journal of medical genetics Issue: Volume 48:Issue 6(2011) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Issue 8 (27th June 2013) Authors: Curry, Cynthia J.; Rosenfeld, Jill A.; Grant, Erica; Gripp, Karen W.; Anderson, Carol; Aylsworth, Arthur S.; Saad, Taha Ben; Chizhikov, Victor V.; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, ... Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗