Որոնման արդյունքները - Finbar O’Callaghan
- Ցուցադրվում են 1 - 20 արդյունքները 30
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Diagnosis of tuberous sclerosis complex in the fetus Pinelopi Dragoumi, Finbar O’Callaghan, Dimitrios Zafeiriou
Հրապարակվել է 2018Revisão -
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The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification<sup>... John Osborne, Andrew Lux, Stuart W. Edwards, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Richard Newton, Christopher Verity, Finbar O’Callaghan
Հրապարակվել է 2010Artigo -
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The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: Evidence from the United Kingdom Infantile Spasms Study Finbar O’Callaghan, Andrew Lux, Katrina Darke, Stuart W. Edwards, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Richard Newton, Christopher Verity, John Osborne
Հրապարակվել է 2011Artigo -
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The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex Finbar O’Callaghan, Tirril Harris, Carol Joinson, Patrick Bolton, M. Noakes, D Presdee, Shelley Renowden, Alistair W. Shiell, C N Martyn, J. P. Osborne
Հրապարակվել է 2004Artigo -
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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients Hayley Archer, Julie Evans, Stuart W. Edwards, James Colley, Ruth Newbury‐Ecob, Finbar O’Callaghan, Margaret Huyton, M O'Regan, John Tolmie, Julian R. Sampson, Angus Clarke, J. P. Osborne
Հրապարակվել է 2006Artigo -
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The UK guidelines for management and surveillance of Tuberous Sclerosis Complex Sam Amin, J.C. Kingswood, Patrick Bolton, Frances Elmslie, Daniel P. Gale, C. C. Harland, Simon R. Johnson, Alasdair Parker, Julian R. Sampson, M Smeaton, Ingram Wright, Finbar O’Callaghan
Հրապարակվել է 2018Artigo -
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Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population‐based cohort Andrew A. Mallick, Vijeya Ganesan, Fenella J. Kirkham, Penny Fallon, Tammy Hedderly, Tony McShane, Alasdair Parker, Evangeline Wassmer, Elizabeth Wraige, Sam Amin, Hannah B Edwards, Mario Cortina‐Borja, Finbar O’Callaghan
Հրապարակվել է 2016Artigo -
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N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward Victoria Defelippe, Eva H. Brilstra, Willem M. Otte, J. Helen Cross, Finbar O’Callaghan, Valentina De Giorgis, Annapurna Poduri, Holger Lerche, Sanjay M. Sisodiya, Kees P. J. Braun, Floor E. Jansen, Emilio Perucca
Հրապարակվել է 2024Revisão -
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Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy Manju A. Kurian, Esther Meyer, Grace Vassallo, Neil V. Morgan, Nandhini Prakash, Shanaz Pasha, Nebula A. Hai, Salwati Shuib, Fatima Rahman, Evangeline Wassmer, J. Helen Cross, Finbar O’Callaghan, John Osborne, Ingrid E. Scheffer, Paul Gissen, Eamonn R. Maher
Հրապարակվել է 2010Artigo -
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Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Marcus Likeman, Andrew Lux, Mark T. Mackay, Andrew A. Mallick, Richard Newton, Melinda Nolan, Ronit Pressler, D. Rating, Bernhard Schmitt, Christopher Verity, John Osborne
Հրապարակվել է 2016Artigo -
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The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (<scp>ICISS</scp>) John Osborne, Stuart W. Edwards, Fabienne Dietrich Alber, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Marcus Likeman, Andrew Lux, Mark T. Mackay, Andrew A. Mallick, Richard Newton, Melinda Nolan, Ronit Pressler, D. Rating, Bernhard Schmitt, Christopher Verity, Finbar O’Callaghan
Հրապարակվել է 2019Artigo -
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Toward responsible clinical n-of-1 strategies for rare diseases Victoria Defelippe, Ghislaine J. M. W. van Thiel, Willem M. Otte, Roger E. G. Schutgens, Bas C. Stunnenberg, J. Helen Cross, Finbar O’Callaghan, Valentina De Giorgis, Floor E. Jansen, Emilio Perucca, Eva H. Brilstra, Kees P. J. Braun
Հրապարակվել է 2023Revisão -
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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study Manju A. Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula A. Hai, H.‐J. Christen, Georg F. Hoffmann, Philip Jardine, Arpad von Moers, Santosh Mordekar, Finbar O’Callaghan, Evangeline Wassmer, Elizabeth Wraige, Christa Dietrich, Timothy Lewis, Keith Hyland, Simon Heales, Terence D. Sanger, Paul Gissen, Birgit Assmann, Maarten E. A. Reith, Eamonn R. Maher
Հրապարակվել է 2010Artigo -
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TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex J.C. Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J. de Vries, Carla Fladrowski, Christoph Hertzberg, Anna Jansen, Sergiusz Jóźwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard A. Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères, Е. Д. Белоусова, Tom Carter, Vincent Cottin, Maria Dahlin, José C. Ferreira, Alfons Macaya, Mirjana Perković Benedik, Valentin Sander, Sotirios Youroukos, Ramon Castellana, Bulent Ulker, Martha Feucht
Հրապարակվել է 2014Artigo -
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TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients J.C. Kingswood, Guillaume Beaure d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rima Nabbout, Finbar O’Callaghan, Mirjana P. Benedik, Jiong Qin, Rubén Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen
Հրապարակվել է 2017Artigo -
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Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness J.C. Kingswood, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D ́Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen
Հրապարակվել է 2018Artigo -
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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume Beaure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, J.C. Kingswood, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen
Հրապարակվել է 2018Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Medicine
Internal medicine
Pediatrics
Psychiatry
Tuberous sclerosis
Epilepsy
Pathology
Disease
Biology
Biochemistry
Genetics
Apoptosis
Chemistry
Epileptic spasms
PI3K/AKT/mTOR pathway
Randomized controlled trial
Astrocytoma
Cancer research
Clinical trial
Etiology
Gene
Neuroscience
Nursing
Psychology
Quality of life (healthcare)
Subependymal giant cell astrocytoma
TSC1
Anticonvulsant
Cohort
Environmental health