Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Chong, W Kling"'
Autor:
Mohammad, Shekeeb S., Angiti, Rajeshwar Reddy, Biggin, Andrew, Morales-Briceño, Hugo, Goetti, Robert, Pérez-Dueñas, Belén, Gregory, Allison, Hogarth, Penelope, Ng, Joanne, Papandreou, Apostolos, Bhattacharya, Kaustuv, Rahman, Shamima, Prelog, Kristina, Webster, Richard I, Wassmer, Evangeline, Hayflick, Susan, Livingston, John, Kurian, Manju, Chong, W. Kling, Dale, Russell C., Universitat Autònoma de Barcelona
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Universitat Autònoma de Barcelona
Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2fef3bab6b386d40809f061ce368a238
https://ddd.uab.cat/record/255315
https://ddd.uab.cat/record/255315
Autor:
Grundy, Richard G, Wilne, Sophie A, Weston, Claire L, Robinson, Kath, Lashford, Linda S, Ironside, James, Cox, Tim, Chong, W Kling, Campbell, Richard HA, Bailey, Cliff C, Gattamaneni, Rao, Picton, Sue, Thorpe, Nicky, Mallucci, Conor, English, Martin W, Punt, Jonathan AG, Walker, David A, Ellison, David W, Machin, David
Publikováno v:
In Lancet Oncology 2007 8(8):696-705
Autor:
Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, McTague, Amy, Ng, Joanne, Meyer, Esther, Chong, W. Kling, Boyd, Stewart, MacLellan, Linda, Kirkpatrick, Martin, Kurian, Manju A
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Tremor and Other Hyperkinetic Movements
Tremor and Other Hyperkinetic Movements
Background: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. Case Report: A family with two affected siblings, presenting with multifocal polymyocl
Autor:
Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
Publikováno v:
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. 〈http://www.sciencedirect.com/science/article/pii/S0022202X16003328〉. 〈10.1016/j.jid.2015.11.027〉
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. ⟨10.1016/j.jid.2015.11.027⟩
The Journal of Investigative Dermatology
Thomas, A C, Zeng, Z, Rivière, J-B, O'Shaughnessy, R, Al-Olabi, L, St.-Onge, J, Atherton, D J, Aubert, H, Bagazgoitia, L, Barbarot, S, Bourrat, E, Chiaverini, C, Chong, W K, Duffourd, Y, Glover, M, Groesser, L, Hadj-Rabia, S, Hamm, H, Happle, R, Mushtaq, I, Lacour, J-P, Waelchli, R, Wobser, M, Vabres, P, Patton, E E & Kinsler, V A 2016, ' Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis ', Journal of Investigative Dermatology, vol. 136, no. 4, pp. 770-778 . https://doi.org/10.1016/j.jid.2015.11.027
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. 〈http://www.sciencedirect.com/science/article/pii/S0022202X16003328〉. 〈10.1016/j.jid.2015.11.027〉
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. ⟨10.1016/j.jid.2015.11.027⟩
The Journal of Investigative Dermatology
Thomas, A C, Zeng, Z, Rivière, J-B, O'Shaughnessy, R, Al-Olabi, L, St.-Onge, J, Atherton, D J, Aubert, H, Bagazgoitia, L, Barbarot, S, Bourrat, E, Chiaverini, C, Chong, W K, Duffourd, Y, Glover, M, Groesser, L, Hadj-Rabia, S, Hamm, H, Happle, R, Mushtaq, I, Lacour, J-P, Waelchli, R, Wobser, M, Vabres, P, Patton, E E & Kinsler, V A 2016, ' Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis ', Journal of Investigative Dermatology, vol. 136, no. 4, pp. 770-778 . https://doi.org/10.1016/j.jid.2015.11.027
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1a7b2c6f371b65e70ff89ff8fafdcbe2
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-189689
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-189689
Akademický článek
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Autor:
Mills, Philippa B, Camuzeaux, Stephane S M, Footitt, Emma J, Mills, Kevin A, Gissen, Paul, Fisher, Laura, Das, Krishna B, Varadkar, Sophia M, Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R, Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I, Livingston, John H, Bala, Pronab, Morel, Chantal F, Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W Kling, Pitt, Matthew, Clayton, Peter T
Publikováno v:
Mills, P B, Camuzeaux, S S M, Footitt, E J, Mills, K A, Gissen, P, Fisher, L, Das, K B, Varadkar, S M, Zuberi, S, McWilliam, R, Stodberg, T, Plecko, B, Baumgartner, M R, Maier, O, Calvert, S, Riney, K, Wolf, N I, Livingston, J H, Bala, P, Morel, C F, Feillet, F, Raimondi, F, Del Giudice, E, Chong, W K, Pitt, M & Clayton, P T 2014, ' Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome ', Brain, vol. 137, pp. 1350-1360 . https://doi.org/10.1093/brain/awu051
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (5), pp.1350-1360. ⟨10.1093/brain/awu051⟩
Brain, 137, 1350-1360. Oxford University Press
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (5), pp.1350-1360. ⟨10.1093/brain/awu051⟩
Brain, 137, 1350-1360. Oxford University Press
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills et al. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::32a23f3d512a09839e593e237bb2655f
https://doi.org/10.5167/uzh-94354
https://doi.org/10.5167/uzh-94354
Akademický článek
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Autor:
Hacohen, Yael, Mankad, Kshitij, Chong, W Kling, Barkhof, Frederik, Vincent, Angela, Lim, Ming, Wassmer, Evangeline, Ciccarelli, Olga, Hemingway, Cheryl
Publikováno v:
In The Lancet 23 February 2017 389 Supplement 1:S41-S41
Akademický článek
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Akademický článek
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