Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia by Kwasniewska, A, Shanks, M, Lise, S, Cader, M, Talbot, K, Downes, S, Ragoussis, J, Nemeth, A

The prevalence of leptotrichia amnionii in cervical swabs of HPV positive and negative women. by Nawrot, R, Kamieniarz, K, Malinowska, M, Józefiak, A, Kedzia, W, Kwaśniewska, A, Kuźma, D, Goździcka-Józefiak, A

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD) by Shanks, M, Downes, S, Kwasniewska, A, Packham, E, Clouston, P, Seller, A, Copley, R, Lise, S, Taylor, J, Hudspith, K, Wilkie, A, Ragoussis, J, Nemeth, A

VEGF Expression in Umbilical Cord MSC Depends on the Patient’s Health, the Week of Pregnancy in Which the Delivery Took Place, and the Body Weight of the Newborn – Prel... by Bieńko K, Leszcz M, Więckowska M, Białek J, Petniak A, Szymanowski R, Wilińska A, Piszcz B, Krzyżanowski A, Kwaśniewska A, Płachno BJ, Gil-Kulik P, Kocki J

Get full text

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. by Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. by Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS) by Nemeth, A, Kwasniewska, A, Schnekenberg, R, Lise, S, Becker, E, Shanks, M, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Lunt, P, Morrisor, P, Worth, P, Tolmie, J, Packham, E, Seller, A, Ragoussis, J

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model by Németh, A, Jiannis Ragoussis, Kwasniewska, A, Lise, S, Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O’Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. by Németh, A, Kwasniewska, A, Lise, S, Parolin Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Zameel Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O'Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A, Ragoussis, J

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. by Lise, S, Clarkson, Y, Perkins, E, Kwasniewska, A, Sadighi Akha, E, Schnekenberg, R, Suminaite, D, Hope, J, Baker, I, Gregory, L, Green, A, Allan, C, Lamble, S, Jayawant, S, Quaghebeur, G, Cader, M, Hughes, S, Armstrong, R, Kanapin, A, Rimmer, A, Lunter, G, Mathieson, I, Cazier, J, Buck, D, Taylor, J, Bentley, D, McVean, G, Donnelly, P, Knight, S, Jackson, M, Ragoussis, J, Németh, A

Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity by Hendricks, AE, Bochukova, EG, Marenne, G, Keogh, JM, Atanassova, N, Bounds, R, Wheeler, E, Mistry, V, Henning, E, Körner, A, Muddyman, D, McCarthy, S, Hinney, A, Hebebrand, J, Scott, RA, Langenberg, C, Wareham, NJ, Surendran, P, Howson, JM, Butterworth, AS, Danesh, J, Nordestgaard, BG, Nielsen, SF, Afzal, S, Papadia, S, Ashford, S, Garg, S, Millhauser, GL, Palomino, RI, Kwasniewska, A, Tachmazidou, I, O'Rahilly, S, Zeggini, E, Barroso, I, Farooqi, IS, Understanding Society Scientific Group, Epic-Cvd Consortium, Uk10K Consortium