Items where Subject is "QC-QM General sciences"

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Number of items at this level: 7.


Baruffini, Enrico and Dallabona, Cristina and Invernizzi, Federica and Yarham, John W and Melchionda, Laura and Blakely, Emma L and Lamantea, Eleonora and Donnini, Claudia and Santra, Saikat and Vijayaraghavan, Suresh and Roper, Helen P and Burlina, Alberto and Kopajtich, Robert and Walther, Anett and Strom, Tim M and Haack, Tobias B and Prokisch, Holger and Taylor, Robert W and Ferrero, Ileana and 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 by using their HEFT Athens login IDs

Boudellioua, Imane and Kulmanov, Maxat and Schofield, Paul N and 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.


Davidson, Ann E and Siddiqui, Fazeel M and Lopez, Michael A and Lunt, Peter and Carlson, Heather A and Moore, Brian E and Love, Seth and Born, Donald E and Roper, Helen and Majumdar, Anirban and Jayadev, Suman and Underhill, Hunter R and Smith, Corrine O and von der Hagen, Maja and Hubner, Angela and Jardine, Philip and Merrison, Andria and Curtis, Elizabeth and Cullup, Thomas and Jungbluth, Heinz and Cox, Mary O and Winder, Thomas L and Abdel Salam, Hossam and Li, Jun Z and 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 by using their HEFT Athens login IDs


Klein, Andrea and Lillis, Suzanne and Munteanu, Iulia and Scoto, Mariacristina and Zhou, Haiyan and Quinlivan, Ros and Straub, Volker and Manzur, Adnan Y and Roper, Helen and Jeannet, Pierre-Yves and Rakowicz, Wojtek and Jones, David Hilton and Jensen, Uffe Birk and Wraige, Elizabeth and Trump, Natalie and Schara, Ulrike and Lochmuller, Hanns and Sarkozy, Anna and Kingston, Helen and Norwood, Fiona and Damian, Maxwell and Kirschner, Janbernd and Longman, Cheryl and Roberts, Mark and Auer-Grumbach, Michaela and Hughes, Imelda and Bushby, Kate and Sewry, Caroline and Robb, Stephanie and Abbs, Stephen and 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 by using their HEFT Athens login IDs


Logan, Clare V and Szabadkai, Gy├Ârgy and Sharpe, Jenny A and Parry, David A and Torelli, Silvia and Childs, Anne-Marie and Kriek, Marjolein and Phadke, Rahul and Johnson, Colin A and Roberts, Nicola Y and Bonthron, David T and Pysden, Karen A and Whyte, Tamieka and Munteanu, Iulia and Foley, A Reghan and Wheway, Gabrielle and Szymanska, Katarzyna and Natarajan, Subaashini and Abdelhamed, Zakia A and Morgan, Joanne E and Roper, Helen and Santen, Gijs W E and Niks, Erik H and van der Pol, W Ludo and Lindhout, Dick and Raffaello, Anna and De Stefani, Diego and den Dunnen, Johan T and Sun, Yu and Ginjaar, Ieke and Sewry, Caroline A and Hurles, Matthew and Rizzuto, Rosario and Duchen, Michael R and 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 and Nikolousis, Emmanouil and Phillips, Neil and Rudzki, Zbigniew and Lovell, Richard and Kishore, Bhuvan and 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.


Sethi, Siddharth and Vorontsov, Ilya E and Kulakovskiy, Ivan V and Greenaway, Simon and Williams, John A and Makeev, Vsevolod J and Brown, Steve D M and 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 Mon Jan 18 09:45:43 2021 UTC.