High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency von Thorburn, David R, Mootha, Vamsi K, Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J

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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma von Pagnamenta, Alistair T., Taanman, Jan-Willem, Wilson, Callum J., Anderson, Neil E., Marotta, Rosetta, Duncan, Andrew J., Glindzicz, Maria Bitner, Taylor, Robert W., Laskowski, Adrienne, Thorburn, David R., Rahman, Shamima

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Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia von Homer, Vivienne M., George, Peter M., Du Toit, Stephen, Davidson, James S., Wilson, Callum J.

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Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase ( PRKAG2), Not by Phosphorylase Kinase Deficie... von Burwinkel, Barbara, Scott, John W., Bührer, Christoph, van Landeghem, Frank K.H., Cox, Gerald F., Wilson, Callum J., Grahame Hardie, D., Kilimann, Manfred W.

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Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy von Wilson, Callum J., Oliva, Claudio Priore, Maggi, Franco, Catapano, Alberico L., Calandra, Sebastiano

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Salicylate intoxication from teething gel in infancy von Williams, Gary D, Kirk, Edwin P, Wilson, Callum J, Meadows, Caroline A, Chan, Betty S

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Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency von Bailey, Lisa M, Ivanov, Ruby A, Jitrapakdee, Sarawut, Wilson, Callum J, Wallace, John C, Polyak, Steven W

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A SURF1 gene mutation presenting as isolated leukodystrophy von Rahman, Shamina, Brown, Ruth M, Chong, Wui Khean, Wilson, Callum J, Brown, Garry K

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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function von Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François‐Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie‐Christine, Oppermann, Ilena, Pérez‐Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomas Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.

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Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia von Homer, Vivienne, George, Peter M, du Toit, Stephen, Davidson, James S, Wilson, Callum J

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Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis von Wilson, Callum J, Champion, Michael P, Collins, Jane E, Clayton, Peter T, Leonard, James V

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Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates von Wilson, Callum J., Myer, Michael, Darlow, Brian A., Stanley, Thorsten, Thomson, Glen, Baumgartner, E. Regula, Kirby, Denise M., Thorburn, David R.

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Metabolic disease : a multitude of presentations von Wilson, Callum J

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Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase def... von Burwinkel, Barbara, Scott, John W, Bührer, Christoph, van Landeghem, Frank K H, Cox, Gerald F, Wilson, Callum J, Grahame Hardie, D, Kilimann, Manfred W

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Mitochondrial DNA Point Mutation T9176C in Leigh Syndrome von Wilson, Callum J., Wood, Nicholas W., Leonard, James V., Surtees, Robert

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Marfanoid habitus, dysmorphic features, and web neck von LEE, Y. C, WILSON, Callum J, WINSHIP, Ingrid M, VEALE, Andrew G

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A SURF 1 gene mutation presenting as isolated leukodystrophy von RAHMAN, Shamina, BROWN, Ruth M, WUI KHEAN CHONG, WILSON, Callum J, BROWN, Garry K

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Marfanoid Habitus, Dysmorphic Features, and Web Neck von LEE, GARY Y. C., WILSON, CALLUM J., WINSHIP, INGRID M., VEALE, ANDREW G.

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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function von Rice, Gillian I, Park, Sehoon, Gavazzi, Francesco, Adang, Laura A, Ayuk, Loveline A, Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E, Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A, Brimble, Elise, Dale, Russell C, Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A, Lev, Dorit, Levrat, Virginie, Livingston, John H, Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P, Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J, Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M, Orcesi, Simona, Vanderver, Adeline L, Hur, Sun, Crow, Yanick J, Universitat Autònoma de Barcelona

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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function von Rice, Gillian I, Park, Sehoon, Gavazzi, Francesco, Adang, Laura A, Ayuk, Loveline A, Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E, Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A, Brimble, Elise, Dale, Russell C, Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A, Lev, Dorit, Levrat, Virginie, Livingston, John H, Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P, Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J, Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M, Orcesi, Simona, Vanderver, Adeline L, Hur, Sun, Crow, Yanick J, Universitat Autònoma de Barcelona

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