Pharmacogenetics of aminoglycoside-related ototoxicity: a systematic review
Gaafar, D, Baxter, N, Cranswick, N, Christodoulou, J, Gwee, A
Published in Journal of antimicrobial chemotherapy (01.07.2024)
Published in Journal of antimicrobial chemotherapy (01.07.2024)
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The Concurrent and Longitudinal Relationship between Perinatal Sleep Difficulties and Depression in a Large Sample of High-Risk Women in South Africa
Asarnow, L. D., Norwood, P. P., Christodoulou, J., Tomlinson, M., Rotheram-Borus, M. J.
Published in Maternal and child health journal (01.04.2024)
Published in Maternal and child health journal (01.04.2024)
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Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease
Selvanathan, Arthavan, Forwood, C., Russell, J., Batten, K., Thompson, S., Palmer, E. E., Macintosh, R., Nightingale, S., Mitchell, R., Alvaro, F., Dudding‐Byth, T., Lunke, S., Christodoulou, J., Stark, Z., White, F., Jones, S. A., Bhattacharya, K.
Published in Pediatric blood & cancer (01.09.2023)
Published in Pediatric blood & cancer (01.09.2023)
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Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
Balasubramaniam, S., Riley, L. G., Bratkovic, D., Ketteridge, D., Manton, N., Cowley, M. J., Gayevskiy, V., Roscioli, T., Mohamed, M., Gardeitchik, T., Morava, E., Christodoulou, J.
Published in Journal of inherited metabolic disease (01.09.2017)
Published in Journal of inherited metabolic disease (01.09.2017)
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Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature
Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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Updating the profile of C-terminal MECP2 deletions in Rett syndrome
Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, Smeets, E, Leonard, H
Published in Journal of medical genetics (01.04.2010)
Published in Journal of medical genetics (01.04.2010)
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Potential of AAV vectors in the treatment of metabolic disease
Alexander, I E, Cunningham, S C, Logan, G J, Christodoulou, J
Published in Gene therapy (01.06.2008)
Published in Gene therapy (01.06.2008)
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Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype
Gold, W A, Williamson, S L, Kaur, S, Hargreaves, I P, Land, J M, Pelka, G J, Tam, P P L, Christodoulou, J
Published in Mitochondrion (01.03.2014)
Published in Mitochondrion (01.03.2014)
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Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
Chung, Seo-Kyung, Vanbellinghen, Jean-François, Mullins, Jonathan G L, Robinson, Angela, Hantke, Janina, Hammond, Carrie L, Gilbert, Daniel F, Freilinger, Michael, Ryan, Monique, Kruer, Michael C, Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhys H, Harvey, Robert J, Lynch, Joseph W, Rees, Mark I
Published in The Journal of neuroscience (14.07.2010)
Published in The Journal of neuroscience (14.07.2010)
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Web Resource
Rett syndrome: clinical review and genetic update
Weaving, L S, Ellaway, C J, Gécz, J, Christodoulou, J
Published in Journal of Medical Genetics (01.01.2005)
Published in Journal of Medical Genetics (01.01.2005)
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Book Review
Update on transcobalamin deficiency: clinical presentation, treatment and outcome
Trakadis, Y. J., Alfares, A., Bodamer, O. A., Buyukavci, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Manoli, I., Mitchell, J., Nordwall, M., Prasad, C., Scaglia, F., Schiff, M., Schrewe, B., Touati, G., Tchan, M. C., Varet, B., Venditti, C. P., Zafeiriou, D., Rupar, C. A., Rosenblatt, D. S., Watkins, D., Braverman, N.
Published in Journal of inherited metabolic disease (01.05.2014)
Published in Journal of inherited metabolic disease (01.05.2014)
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A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E.M., Dionisi‐Vici, C., Christodoulou, J., Bertini, E., Carrozzo, R.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders
Zhang, J., Barbaro, P., Guo, Y., Alodaib, A., Li, J., Gold, W., Adès, L., Keating, B.J., Xu, X., Teo, J., Hakonarson, H., Christodoulou, J.
Published in Clinical genetics (01.02.2016)
Published in Clinical genetics (01.02.2016)
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The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
Zeev, B Ben, Bebbington, A, Ho, G, Leonard, H, de Klerk, N, Gak, E, Vecsler, M, Vecksler, M, Christodoulou, J
Published in Neurology (07.04.2009)
Published in Neurology (07.04.2009)
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An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples
Alodaib, A, Carpenter, K, Wiley, V, Sim, K, Christodoulou, J, Wilcken, B
Published in Annals of clinical biochemistry (01.09.2011)
Published in Annals of clinical biochemistry (01.09.2011)
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Glutaric aciduria type I: outcome following detection by newborn screening
Bijarnia, S., Wiley, V., Carpenter, K., Christodoulou, J., Ellaway, C. J., Wilcken, B.
Published in Journal of inherited metabolic disease (01.08.2008)
Published in Journal of inherited metabolic disease (01.08.2008)
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Leigh syndrome: clinical features and biochemical and DNA abnormalities
Rahman, S, Blok, R B, Dahl, H H, Danks, D M, Kirby, D M, Chow, C W, Christodoulou, J, Thorburn, D R
Published in Annals of neurology (01.03.1996)
Published in Annals of neurology (01.03.1996)
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Costeff optic atrophy syndrome: New clinical case and novel molecular findings
Ho, G., Walter, J. H., Christodoulou, J.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Early progressive encephalopathy in boys and MECP2 mutations
Kankirawatana, P, Leonard, H, Ellaway, C, Scurlock, J, Mansour, A, Makris, C M, Dure, 4th, L S, Friez, M, Lane, J, Kiraly-Borri, C, Fabian, V, Davis, M, Jackson, J, Christodoulou, J, Kaufmann, W E, Ravine, D, Percy, A K
Published in Neurology (11.07.2006)
Published in Neurology (11.07.2006)
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