المؤلفون: A. Basheer, M.V.P. Srivastava, P.W. Vinny, R.D.S. Pitceathly, V.Y. Vishnu

المصدر: Med J Armed Forces India

مصطلحات موضوعية: Counterfactual thinking, Randomized controlled trial, law, business.industry, Big data, Applied psychology, Perspective, Medicine, General Medicine, business, Causality, law.invention

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e013e460f176276af8065b2fbd3ee6
https://pubmed.ncbi.nlm.nih.gov/34305280

المؤلفون: Robert McFarland, Sonia García-Ruiz, Ines A. Barbosa, Joanna Poulton, Robert W. Taylor, Michael A. Simpson, Holden H, David Zhang, Haiyan Zhou, Mina Ryten, Emil K. Gustavsson, Regina H. Reynolds, Jack J Collier, Sethi S, Aguti S, Juan A. Botía, Francesco Muntoni, Leonardo Collado-Torres, R.D.S. Pitceathly, Monika Oláhová, C Deshpande

مصطلحات موضوعية: Bioconductor, Computer science, Event (computing), Control data, RNA splicing, Sequencing data, RNA, Computational biology, Aberrant splicing, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4d0ff7ca955188eeebe96c9ec1a0b123
https://doi.org/10.1101/2021.03.29.437534

المؤلفون: A. Pittmann, Olivia V. Poole, H Houlden, Enrico Bugiardini, M. Menunni, Antonella Spinazzola, I. Dalla Rosa, Ian Holt, Michael G. Hanna, R.D.S. Pitceathly, Rosaline Quinlivan, Alice Mitchell, J.L. Holton

المصدر: Neuromuscular Disorders. 28:S30-S31

مصطلحات موضوعية: Genetics, Mitochondrial encephalomyopathy, Neurology, Partial agenesis, Ribosomal protein, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Ribosomal RNA, Biology, medicine.disease, Corpus callosum, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17a82617aac6dcb945f55ead0e575400
https://doi.org/10.1016/s0960-8966(18)30381-x

المؤلفون: Enrico Bugiardini, Cathy E. Woodward, R.D.S. Pitceathly, Alan M. Pittman, Michael G. Hanna, J. Hardy, H Houlden, Olivia V. Poole, D. Murphy

المصدر: Neuromuscular Disorders. 28:S33

مصطلحات موضوعية: Mitochondrial DNA, Data sequences, Neurology, Pediatrics, Perinatology and Child Health, Square (cipher), Neurology (clinical), Computational biology, Biology, Genetics (clinical), Queen (playing card)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::809ae15561df32c211d3c1e01deb856a
https://doi.org/10.1016/s0960-8966(18)30389-4

المؤلفون: Patrick F. Chinnery, H Houlden, JS Thornton, Francesco Muntoni, Gita Ramdharry, Matilde Laura, Alexander M. Rossor, L. Germain, B. McFarland, Hanns Lochmüller, M Skorupinska, V. Straub, I Skorupinska, Douglass M. Turnbull, James Miller, E. Matthews, Pedro Machado, Mary M. Reilly, Jasper M. Morrow, M.P. Lunn, Michael G. Hanna, Chris Turner, Damian Kozyra, A Bellin, J.L. Holton, Rosaline Quinlivan, M. Parton, R.D.S. Pitceathly, Tarek A. Yousry, K. Bushby

المصدر: Neuromuscular Disorders. 28:S37

مصطلحات موضوعية: Discovery science, Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Observational study, Neurology (clinical), business, Genetics (clinical), Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::585b7226d6c92c24de40255d50f81988
https://doi.org/10.1016/s0960-8966(18)30401-2

المؤلفون: Michael G. Hanna, I Skorupinska, Enrico Bugiardini, R.D.S. Pitceathly

المصدر: Neuromuscular Disorders. 28:S33

مصطلحات موضوعية: Natural history, medicine.medical_specialty, Systematic review, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Intensive care medicine, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::699e388f402fbbe644d7e2b27a58bec9
https://doi.org/10.1016/s0960-8966(18)30390-0

المؤلفون: Olivia V. Poole, Enrico Bugiardini, I Skorupinska, R.D.S. Pitceathly, Michael G. Hanna, Y.S. Ng, Alejandro Horga, Robert McFarland, Douglass M. Turnbull

المصدر: Neuromuscular Disorders. 27:S19

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, Medicine, Neurology (clinical), business, Genetics (clinical), Cause of death

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d86f9941fca0ff94fb58f4a7dccd8aaf
https://doi.org/10.1016/s0960-8966(17)30272-9

المؤلفون: R.D.S. Pitceathly, Michael G. Hanna, Anton Emmanuel, Jalesh N. Panicker, Olivia V. Poole

المصدر: Neuromuscular Disorders. 27:S22

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pelvic organ, Neurology, business.industry, Mitochondrial disease, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, medicine.disease, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c21a874c7dc436347aa07e9a4bcd3248
https://doi.org/10.1016/s0960-8966(17)30282-1

المؤلفون: Alan M. Pittman, S. J. R. Heales, R.D.S. Pitceathly, Mary G. Sweeney, Michael G. Hanna, Enrico Bugiardini, Cathy E. Woodward, Olivia V. Poole, H Houlden

المصدر: Neuromuscular Disorders. 27:S23

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ebcd66ee6ec5d65ad4db7768dd76f9b
https://doi.org/10.1016/s0960-8966(17)30285-7

المؤلفون: Kieren G. Hollingsworth, Robert W. Taylor, H.E. Steele, Grainne S. Gorman, Michael I. Trenell, Andrew M. Blamire, Patrick F. Chinnery, Aura Cecilia Jimenez-Moreno, Robert McFarland, R.D.S. Pitceathly, Djordje G. Jakovljevic, Rita Horvath, A.J. Scadeng, D.M. Turnbull, Michael G. Hanna, J.D. Parikh, S.K. Clark, Jane Newman

المصدر: Neuromuscular Disorders. 27:S18

مصطلحات موضوعية: medicine.medical_specialty, Bezafibrate, business.industry, medicine.disease, Endocrinology, Neurology, Mitochondrial myopathy, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical), medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6babd90af4ec5f2521db7fc1211f143d
https://doi.org/10.1016/s0960-8966(17)30271-7

المؤلفون: David Hilton-Jones, Renata S Scalco, Henry Houlden, Michael G. Hanna, R.D.S. Pitceathly, Mary G. Sweeney, A. Gardiner, Cathy E. Woodward, Heinz Jungbluth, R. Kirk, Rosaline Quinlivan, James M. Polke, Simon E. Olpin, E Murphy

المصدر: Neuromuscular Disorders. 24:801

مصطلحات موضوعية: Genetics, business.industry, Illumina miseq, Amplicon, Bioinformatics, medicine.disease, Neurology, Gene panel, Pediatrics, Perinatology and Child Health, Etiology, Medicine, In patient, Neurology (clinical), business, Gene, Rhabdomyolysis, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b715ffe2e194d78562321a531c753905
https://doi.org/10.1016/j.nmd.2014.06.036

المؤلفون: Y-T Liu, Amelie Pandraud, H Houlden, Michael G. Hanna, Mary M. Reilly, E. Cottenie, Matilde Laura, Alexander M. Rossor, R.D.S. Pitceathly, Alejandro Horga

المصدر: Neuromuscular Disorders. 24:S22

مصطلحات موضوعية: Inherited neuropathies, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Sensory system, In patient, Neurology (clinical), Bioinformatics, business, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::060cae9288d9907eed5b57d1dba591d4
https://doi.org/10.1016/s0960-8966(14)70072-0

المؤلفون: Annapurna Chalasani, Iain P. Hargreaves, Michael G. Hanna, E. Cottenie, S Rahman, H Houlden, Ese E. Mudanohwo, Mary M. Reilly, Sinéad M. Murphy, J.L. Holton, Cathy E. Woodward, S. J. R. Heales, R.D.S. Pitceathly, Mary G. Sweeney, M.P. Lunn

المصدر: Neuromuscular Disorders. 22:S20

مصطلحات موضوعية: Tooth disease, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Physiology, Medicine, Neurology (clinical), Theology, business, Genetics (clinical), Clinical neurology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8e4c521741fbaa4f239fbc2dcf8d83ae
https://doi.org/10.1016/s0960-8966(12)70058-5

المؤلفون: J. He, R.D.S. Pitceathly, N. Pearson, A.R. Foley, Michael G. Hanna, Francesco Muntoni

المصدر: Neuromuscular Disorders. 21:S25

مصطلحات موضوعية: Genetics, Muscle disease, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Physiology, Medicine, Neurology (clinical), Plant biology, business, Genome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::627f941a288c356455004995c72718e3
https://doi.org/10.1016/s0960-8966(11)70084-0

المؤلفون: R.D.S. Pitceathly, Michael G. Hanna, D.M. Turnbull, Victoria Nesbitt, Robert McFarland, S Rahman

المصدر: Neuromuscular Disorders. 21:S21

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ad8901b95d9bbfd927fc39528277136e
https://doi.org/10.1016/s0960-8966(11)70073-6

المؤلفون: S Rahman, Robert McFarland, R.D.S. Pitceathly, Victoria Nesbitt, Michael G. Hanna, D.M. Turnbull

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 81:e66-e66

مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial DNA, Neuromuscular disease, business.industry, Mitochondrial disease, Psychological intervention, medicine.disease, Natural history, Psychiatry and Mental health, Cohort, Physical therapy, Medicine, Surgery, Neurology (clinical), business, Intensive care medicine, Genotyping, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::406af3453978948e230932468f0057c6
https://doi.org/10.1136/jnnp.2010.226340.198

المؤلفون: Michael G. Hanna, E Murphy, Robin H. Lachmann, R.D.S. Pitceathly, S Rahman, C Maritz

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 81:e63-e63

مصطلحات موضوعية: myalgia, medicine.medical_specialty, Pathology, Muscle biopsy, Proximal muscle weakness, Neuromuscular disease, Neurology, medicine.diagnostic_test, business.industry, digestive, oral, and skin physiology, food and beverages, Exercise intolerance, medicine.disease, Psychiatry and Mental health, Mitochondrial myopathy, Internal medicine, medicine, Surgery, Neurology (clinical), medicine.symptom, business, Rhabdomyolysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::496a24ec40884fe2183236b482e92689
https://doi.org/10.1136/jnnp.2010.226340.186

المؤلفون: Rosaline Quinlivan, James Miller, R.D.S. Pitceathly, Michael G. Hanna, J.L. Holton

المصدر: Neuromuscular Disorders. 20:S28

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, Chemistry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Myofibril, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::43b6345fd016e9ee29e3a32f88d6cd17
https://doi.org/10.1016/s0960-8966(10)70099-7

المؤلفون: R.D.S. Pitceathly, Robert McFarland, S Rahman, Michael G. Hanna, D.M. Turnbull, Victoria Nesbitt

المصدر: Neuromuscular Disorders. 20:S23

مصطلحات موضوعية: Gerontology, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical), Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41c08d5b38cfa5e540d2d3887ebb866a
https://doi.org/10.1016/s0960-8966(10)70084-5

المؤلفون: Bugiardini, Enrico, Poole, Olivia V, Manole, Andreea, Pittman, Alan M, Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E, Sweeney, Mary G, Holton, Janice L, Taanman, Jan-willem, Plant, Gordon T, Poulton, Joanna, Zeviani, Massimo, D. Ghezzi, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A, Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J, Houlden, Henry, Hanna, Michael G, Pitceathly, Robert D. S.

المساهمون: E. Bugiardini, O.V. Poole, A. Manole, A.M. Pittman, A. Horga, I. Hargreave, C.E. Woodward, M.G. Sweeney, J.L. Holton, J. Taanman, G.T. Plant, J. Poulton, M. Zeviani, D. Ghezzi, J. Taylor, C. Smith, C. Fratter, M.A. Kanikannan, A. Paramasivam, K. Thangaraj, A. Spinazzola, I.J. Holt, H. Houlden, M.G. Hanna, R.D.S. Pitceathly

مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/28508084; info:eu-repo/semantics/altIdentifier/wos/WOS:000425030300003; volume:3; issue:3; firstpage:e149; lastpage:1; numberofpages:7; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/2434/531240; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048730322

الاتاحة: http://hdl.handle.net/2434/531240
https://doi.org/10.1212/NXG.0000000000000149