1. A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. Issue 1 (24th November 2017) Authors: Paakkola, T.; Vuopala, K.; Kokkonen, H.; Ignatius, J.; Valkama, M.; Moilanen, J.S.; Fahiminiya, S.; Majewski, J.; Hinttala, R.; Uusimaa, J. Journal: Clinical genetics Issue: Volume 93:Issue 1(2018) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CHANGES IN THE SERUM OF GLYCOPROTEINS OF GRANU -LOMA ANNULARE AND NECROBIOSIS LIPOIDICA. (April 1981) Authors: Barter, S.; Majewski, J.; Price, R. G.; Rhodes, E. L. Journal: Biochemical Society transactions Issue: Volume 9:Number 2(1981) Page Start: 333P Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comparison of the mineral and fatty acid profiles of ostrich, turkey and broiler chicken livers. Issue 2 (3rd March 2016) Authors: Majewska, D.; Szczerbińska, D.; Ligocki, M.; Bucław, M.; Sammel, A.; Tarasewicz, Z.; Romaniszyn, K.; Majewski, J. Journal: British poultry science Issue: Volume 57:Issue 2(2016) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing. Issue 3 (13th March 2017) Authors: Balci, T.B.; Hartley, T.; Xi, Y.; Dyment, D.A.; Beaulieu, C.L.; Bernier, F.P.; Dupuis, L.; Horvath, G.A.; Mendoza‐Londono, R.; Prasad, C.; Richer, J.; Yang, X.‐R.; Armour, C.M.; Bareke, E.; Fernandez, B.A.; McMillan, H.J.; Lamont, R.E.; Majewski, J.; Parboosingh, J.S.; Prasad, A.N. Journal: Clinical genetics Issue: Volume 92:Issue 3(2017) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. (21st November 2013) Authors: Dyment, D.A.; Sell, E.; Vanstone, M.R.; Smith, A.C.; Garandeau, D.; Garcia, V.; Carpentier, S.; Le Trionnaire, E.; Sabourdy, F.; Beaulieu, C.L.; Schwartzentruber, J.A.; McMillan, H.J.; FORGE Canada Consortium; Majewski, J.; Bulman, D.E.; Levade, T.; Boycott, K.M. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Human genome meeting 2016. Issue 1 (June 2016) Authors: Srivastava, A.; Wang, Y.; Huang, R.; Skinner, C.; Thompson, T.; Pollard, L.; Wood, T.; Luo, F.; Stevenson, R.; Polimanti, R.; Gelernter, J.; Lin, X.; Lim, I.; Wu, Y.; Teh, A.; Chen, L.; Aris, I.; Soh, S.; Tint, M.; MacIsaac, J. Journal: Human genomics Issue: Volume 10:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. (26th February 2015) Authors: Chardon, Jodi Warman; Smith, A.C.; Woulfe, J.; Pena, E.; Rakhra, K.; Dennie, C.; Beaulieu, C.; Huang, Lijia; Schwartzentruber, J.; Hawkins, C.; Harms, M.B.; Dojeiji, S.; Zhang, M.; Majewski, J.; Bulman, D.E.; Boycott, K.M.; Dyment, D.A. Journal: Clinical genetics Issue: Volume 88:Number 6(2015:Dec.) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. Issue 5 (30th November 2016) Authors: Kernohan, K.D.; McBride, A.; Xi, Y.; Martin, N.; Schwartzentruber, J.; Dyment, D.A.; Majewski, J.; Blaser, S.; Boycott, K.M.; Chitayat, D. Journal: Clinical genetics Issue: Volume 91:Issue 5(2017) Page Start: 708 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neutron reflectometry studies of aluminum–saline water interface under hydrostatic pressure. (January 2015) Authors: Junghans, A.; Chellappa, R.; Wang, P.; Majewski, J.; Luciano, G.; Marcelli, R.; Proietti, E. Journal: Corrosion science Issue: Volume 90(2015) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Neutron reflectometry studies of aluminum–saline water interface under hydrostatic pressure. (January 2015) Authors: Junghans, A.; Chellappa, R.; Wang, P.; Majewski, J.; Luciano, G.; Marcelli, R.; Proietti, E. Journal: Corrosion science Issue: Volume 90(2015) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗