ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency von 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.

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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy von 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

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Marfan syndrome: clinical diagnosis and management von Dean, John C S

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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study von 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.

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism von 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

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism von 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

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Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy von HOBSON, Emma E, THOMAS, Sumesh, CROFTON, Patricia M, MURRAY, Alison D, DEAN, John C. S, LLOYD, David

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Management of Marfan syndrome von Dean, John C S

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Marfan syndrome: clinical diagnosis and management von DEAN, John C. S

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Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome-variable manifestations of a single disorder? von Rasalam, Adelene D., Dean, John C.S.

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Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome von 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

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Ophthalmic findings in fetal anticonvulsant syndrome(s) von Glover, Simon J, Quinn, Anthony G, Barter, Philippa, Hart, Jane, Moore, Susan J, Dean, John C.S, Turnpenny, Peter D

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COTS-Based Software Systems: First International Conference, ICCBSS 2002, Orlando, FL, USA, February 4-6, 2002, Proceedings von Dean, John, Gravel, Andree

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A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization von Strain, Lisa, Dean, John C.S, Hamilton, Mark P.R, Bonthron, David T

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Genetic registers in clinical practice: a survey of UK clinical geneticists von DEAN, JOHN C S, FITZPATRICK, DAVID R, FARNDON, PETER A, KINGSTON, HELEN, CUSINE, DOUGLAS

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A Schinzel-Giedion-like syndrome--a milder version or a separate condition? von Joss, Shelagh, Dean, John C S

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Preliminary phenotypic map of chromosome 4p16 based on 4p deletions von Estabrooks, Laurel L., Rao, Kathleen W., Driscoll, Deborah A., Crandall, Barbara F., Dean, John C. S., Ikonen, Elina, Korf, Bruce, Aylsworth, Arthur S.

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Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis von 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.

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Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening von 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

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Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder? von Rasalam, Adelene D, Dean, John C S

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