ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Olsen, Rikke K. J., Olpin, Simon E., Andresen, Brage S., Miedzybrodzka, Zofia H., Pourfarzam, Morteza, Merinero, Begoña, Frerman, Frank E., Beresford, Michael W., Dean, John C. S., Cornelius, Nanna, Andersen, Oluf, Oldfors, Anders, Holme, Elisabeth, Gregersen, Niels, Turnbull, Douglass M., Morris, Andrew A. M.
Published in Brain (London, England : 1878) (01.08.2007)
Published in Brain (London, England : 1878) (01.08.2007)
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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
Sommerville, Ewen W, Ng, Yi Shiau, Alston, Charlotte L, Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L, Schaefer, Andrew M, Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A, Rawles, John M, Dean, John C S, Petty, Richard K, Farrugia, Maria E, Haack, Tobias B, Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M, Donnini, Claudia, Taylor, Robert W, Gorman, Gráinne S
Published in JAMA neurology (01.06.2017)
Published in JAMA neurology (01.06.2017)
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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
Moore, Susan J., Green, Jane S., Fan, Yanli, Bhogal, Ashvinder K., Dicks, Elizabeth, Fernandez, Bridget A., Stefanelli, Mark, Murphy, Christopher, Cramer, Benvon C., Dean, John C.S., Beales, Philip L., Katsanis, Nicholas, Bassett, Anne S., Davidson, William S., Parfrey, Patrick S.
Published in American journal of medical genetics. Part A (01.02.2005)
Published in American journal of medical genetics. Part A (01.02.2005)
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Journal Article
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Journal Article
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
ION, Andra, TARTAGLIA, Marco, SOMER, Mirja, PARENTI, Giancarlo, CROSBY, Andrew H, PATTON, Michael A, GELB, Bruce D, JEFFERY, Steve, XIAOLING SONG, KALIDAS, Kamini, VAN DER BURGT, Ineke, SHAW, Adam C, MING, Jeffrey E, ZAMPINO, Giuseppe, ZACKAI, Elaine H, DEAN, John C. S
Published in Human genetics (01.10.2002)
Published in Human genetics (01.10.2002)
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Ophthalmic findings in fetal anticonvulsant syndrome(s)
Glover, Simon J, Quinn, Anthony G, Barter, Philippa, Hart, Jane, Moore, Susan J, Dean, John C.S, Turnpenny, Peter D
Published in Ophthalmology (Rochester, Minn.) (01.05.2002)
Published in Ophthalmology (Rochester, Minn.) (01.05.2002)
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Journal Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
Sommerville, Ewen W, Ng, Yi Shiau, Alston, Charlotte L, Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L, Schaefer, Andrew M, Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A, Rawles, John M, Dean, John C S, Petty, Richard K, Farrugia, Maria E, Haack, Tobias B, Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M, Donnini, Claudia, Taylor, Robert W, Gorman, Gráinne S
Published in Archives of neurology (Chicago) (01.06.2017)
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Published in Archives of neurology (Chicago) (01.06.2017)
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Preliminary phenotypic map of chromosome 4p16 based on 4p deletions
Estabrooks, L L, Rao, K W, Driscoll, D A, Crandall, B F, Dean, J C, Ikonen, E, Korf, B, Aylsworth, A S
Published in American journal of medical genetics (17.07.1995)
Published in American journal of medical genetics (17.07.1995)
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Genetic registers in clinical practice: a survey of UK clinical geneticists
DEAN, JOHN C S, FITZPATRICK, DAVID R, FARNDON, PETER A, KINGSTON, HELEN, CUSINE, DOUGLAS
Published in Journal of medical genetics (01.08.2000)
Published in Journal of medical genetics (01.08.2000)
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Journal Article
Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis
de Silva, Deepthi C., Wright, Morag F., Stevenson, David A. J., Clark, Caroline, Gray, Elizabeth S., Holmes, John D., Dean, John C. S., Haites, Neva E., Dunlop, Malcolm G.
Published in Cancer (01.03.1996)
Published in Cancer (01.03.1996)
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Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening
Miedzybrodzka, Zosia H, Hall, Marion H, Mollison, Jill, Templeton, Allan, Russell, Ian T, Dean, John C S, Kelly, Kevin F, Marteau, Theresa M, Haites, Neva E
Published in BMJ (11.02.1995)
Published in BMJ (11.02.1995)
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