1. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019) Authors: Chelban, Viorica; Wilson, Matthew P; Chardon, Jodi Warman; Vandrovcova, Jana; Natalia Zanetti, M; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A; Botía, Juan A; Ryten, Mina; Nicolaou, Paschalis; ... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: e4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022) Authors: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E... Journal: Annals of neurology Issue: Volume 92:Issue 2(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Borrowed time : on death, dying & change /: on death, dying & change. (2022) Editors: Povall, Richard; Osmond, Matthew Record Type: Book Extent: 1 online resource, illustrations (colour) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022) Authors: Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gr... Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 288 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Collagen and collagen‐chondroitin sulfate scaffolds with uniaxially aligned pores for the biomimetic, three dimensional culture of trabecular meshwork cells. Issue 4 (7th November 2016) Authors: Osmond, Matthew; Bernier, Sarah M.; Pantcheva, Mina B.; Krebs, Melissa D. Journal: Biotechnology and bioengineering Issue: Volume 114:Issue 4(2017) Page Start: 915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery. Issue 6 (9th March 2022) Authors: Driver, Hannah G.; Hartley, Taila; Price, E. Magda; Turinsky, Andrei L.; Buske, Orion J.; Osmond, Matthew; Ramani, Arun K.; Kirby, Emily; Kernohan, Kristin D.; Couse, Madeline; Elrick, Hillary; Lu, Kevin; Mashouri, Pouria; Mohan, Aarthi; So, Delvin; Klamann, Conor; Le, Hannah G. B. H.; Herscovich... Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 800 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Imaging and Analysis of Cellular Locations in Three-Dimensional Tissue Models. (11th March 2019) Authors: Colomb, Warren; Osmond, Matthew; Durfee, Charles; Krebs, Melissa D.; Sarkar, Susanta K. Journal: Microscopy and microanalysis Issue: Volume 25:Number 3(2019) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Imaging and Analysis of Cellular Locations in Three-Dimensional Tissue Models. (June 2019) Authors: Colomb, Warren; Osmond, Matthew; Durfee, Charles; Krebs, Melissa D.; Sarkar, Susanta K. Journal: Microscopy and microanalysis Issue: Volume 25:Number 3(2019) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Issue 2 (19th November 2015) Authors: Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; G... Journal: Human mutation Issue: Volume 37:Issue 2(2016) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review. (September 2021) Authors: Weiman, Daniel I.; Gillespie, Meredith K.; Hartley, Taila; Osmond, Matthew; Ito, Yoko; Boycott, Kym M.; Kernohan, Kristin D.; Lines, Matthew; McMillan, Hugh J. Journal: Child neurology open Issue: Volume 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗