Items where Subject is "QC-QM General sciences"

Group by: Creators | Item Type
Jump to: B | D | K | L | S
Number of items at this level: 7.

B

Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W, Melchionda, Laura, Blakely, Emma L, Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper, Helen P, Burlina, Alberto, Kopajtich, Robert, Walther, Anett, Strom, Tim M, Haack, Tobias B, Prokisch, Holger, Taylor, Robert W, Ferrero, Ileana, Zeviani, Massimo and Ghezzi, Daniele (2013) MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Human mutation, 34 (11). pp. 1501-9. ISSN 1098-1004. This article is accessible to all HEFT staff and students via NHS Evidence www.evidence.nhs.uk by using their HEFT Athens login IDs

Boudellioua, Imane, Kulmanov, Maxat, Schofield, Paul N, Gkoutos, Georgios V and Hoehndorf, Robert (2019) DeepPVP: phenotype-based prioritization of causative variants using deep learning. BMC bioinformatics, 20 (1). p. 65. ISSN 1471-2105.

D

Davidson, Ann E, Siddiqui, Fazeel M, Lopez, Michael A, Lunt, Peter, Carlson, Heather A, Moore, Brian E, Love, Seth, Born, Donald E, Roper, Helen, Majumdar, Anirban, Jayadev, Suman, Underhill, Hunter R, Smith, Corrine O, von der Hagen, Maja, Hubner, Angela, Jardine, Philip, Merrison, Andria, Curtis, Elizabeth, Cullup, Thomas, Jungbluth, Heinz, Cox, Mary O, Winder, Thomas L, Abdel Salam, Hossam, Li, Jun Z, Moore, Steven A and Dowling, James J (2013) Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain : a journal of neurology, 136 (Pt 2). pp. 508-21. ISSN 1460-2156. This article is accessible to all HEFT staff and students via NHS Evidence www.evidence.nhs.uk by using their HEFT Athens login IDs

K

Klein, Andrea, Lillis, Suzanne, Munteanu, Iulia, Scoto, Mariacristina, Zhou, Haiyan, Quinlivan, Ros, Straub, Volker, Manzur, Adnan Y, Roper, Helen, Jeannet, Pierre-Yves, Rakowicz, Wojtek, Jones, David Hilton, Jensen, Uffe Birk, Wraige, Elizabeth, Trump, Natalie, Schara, Ulrike, Lochmuller, Hanns, Sarkozy, Anna, Kingston, Helen, Norwood, Fiona, Damian, Maxwell, Kirschner, Janbernd, Longman, Cheryl, Roberts, Mark, Auer-Grumbach, Michaela, Hughes, Imelda, Bushby, Kate, Sewry, Caroline, Robb, Stephanie, Abbs, Stephen, Jungbluth, Heinz and Muntoni, Francesco (2012) Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human mutation, 33 (6). pp. 981-8. ISSN 1098-1004. This article is accessible to all HEFT staff and students via NHS Evidence www.evidence.nhs.uk by using their HEFT Athens login IDs

L

Logan, Clare V, Szabadkai, Gy├Ârgy, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco and Sheridan, Eamonn (2014) Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nature genetics, 46 (2). pp. 188-93. ISSN 1546-1718.

Lokare, Anand, Nikolousis, Emmanouil, Phillips, Neil, Rudzki, Zbigniew, Lovell, Richard, Kishore, Bhuvan, Milligan, Donald and Paneesha, Shankara (2014) Reduced intensity allogeneic stem cell transplant for treatment of blastic plasmacytoid dendritic cell neoplasm. Hematology reports, 6 (1). p. 5119. ISSN 2038-8322.

S

Sethi, Siddharth, Vorontsov, Ilya E, Kulakovskiy, Ivan V, Greenaway, Simon, Williams, John A, Makeev, Vsevolod J, Brown, Steve D M, Simon, Michelle M and Mallon, Ann-Marie (2020) A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease. BMC genomics, 21 (1). p. 754. ISSN 1471-2164.

This list was generated on Wed Jan 27 07:55:50 2021 UTC.