Zobrazeno 1 - 10
of 229
pro vyhledávání: '"H Németh"'
Autor:
Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l
Externí odkaz:
https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc
Autor:
Taha Kelestemur, Zoltán H. Németh, Pal Pacher, Jennet Beesley, Simon C. Robson, Holger K. Eltzschig, György Haskó
Publikováno v:
Respiratory Research, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Background Trauma and a subsequent hemorrhagic shock (T/HS) result in insufficient oxygen delivery to tissues and multiple organ failure. Extracellular adenosine, which is a product of the extracellular degradation of adenosine 5’ triphosp
Externí odkaz:
https://doaj.org/article/4238d3f9218f4b0c981e481ab1ebd3be
Autor:
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
PREGCARE is a new strategy for families who had a child with a pathogenic de novo mutation, that efficiently identifies couples at higher recurrence risk due to parental mosaicism, while reassuring many others that their recurrence risk is negligible
Externí odkaz:
https://doaj.org/article/092225fc6615446f96c5855f1911ddee
Autor:
Saoud Al-Khuzaei, Karl A. Z. Hudspith, Suzanne Broadgate, Morag E. Shanks, Penny Clouston, Andrea H. Németh, Stephanie Halford, Susan M. Downes
Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. Case presentation A 43-year-old female with
Externí odkaz:
https://doaj.org/article/6db5a84dc0f64ef8971910df600dd251
Autor:
István H. Németh
Publikováno v:
Historical Studies on Central Europe, Vol 1, Iss 2 (2021)
The study presents the possibilities and framework for cooperation between towns in Hungary through the operation of the Town League of Upper Hungary. The cooperation of towns in the Kingdom of Hungary happened primarily through regional relations. A
Externí odkaz:
https://doaj.org/article/ec5384cfb59040bf941cb0736eba660a
Autor:
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)
Abstract Background A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here
Externí odkaz:
https://doaj.org/article/cdc63af88c78403ab16517dff6627483
Autor:
Maggie M. K. Wong, Stephanie D. Hoekstra, Jane Vowles, Lauren M. Watson, Geraint Fuller, Andrea H. Németh, Sally A. Cowley, Olaf Ansorge, Kevin Talbot, Esther B. E. Becker
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-14 (2018)
Abstract Spinocerebellar ataxia type 14 (SCA14) is a subtype of the autosomal dominant cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and neurodegeneration. SCA14 is caused by mutations in the PRKCG gene, encodi
Externí odkaz:
https://doaj.org/article/d36835a4edd448ddb8d5f839cc6adf53
Autor:
Muriel T. N. Panouillères, Raed A. Joundi, Sonia Benitez-Rivero, Binith Cheeran, Christopher R. Butler, Andrea H. Németh, R. Chris Miall, Ned Jenkinson
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
Abstract Early detection of the behavioural deficits of neurodegenerative diseases may help to describe the pathogenesis of such diseases and establish important biomarkers of disease progression. The aim of this study was to identify how sensorimoto
Externí odkaz:
https://doaj.org/article/834bdd1190104655a9bc9d8d4d367e37
Autor:
Rossignol, Sébastien, Vadas, András, Rudolf, Veronika, Gál, Judit, Skorka, Renáta, H. Németh, István, Kovács, Janka, Fillafer, Franz Leander, Mazohl, Brigitte, Godsey, William D., Kund, Attila, Rigó, Máté, Tibori Szabó, Zoltán, Dinu, Radu Harald, K. Horváth, Zsolt, Vukusic, Iva
Publikováno v:
The Hungarian historical review : new series of Acta Historica Academiae Scientiarum Hungaricae. 6(2):434-495
Externí odkaz:
https://www.ceeol.com/search/article-detail?id=872941
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