Characteristics of recently arrived Asian men who have sex with men diagnosed with HIV through sexual health services in Melbourne and Sydney
Blackshaw, Lucinda C.D., Chow, Eric P.F., Varma, Rick, Healey, Loretta, Templeton, David J., Basu, Ashna, Turner, Dane, Medland, Nick A., Rix, Suzanne, Fairley, Christopher K., Chen, Marcus Y.
Published in Australian and New Zealand journal of public health (01.10.2019)
Published in Australian and New Zealand journal of public health (01.10.2019)
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IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Scambler, Peter J, Beales, Philip L, Bland, Elizabeth, Tobin, Jonathan L, Bacchelli, Chiara, Tuysuz, Beyhan, Hill, Josephine, Rix, Suzanne, Pearson, Chad G, Kai, Masatake, Hartley, Jane, Johnson, Colin, Irving, Melita, Elcioglu, Nursel, Winey, Mark, Tada, Masazumi
Published in Nature genetics (01.06.2007)
Published in Nature genetics (01.06.2007)
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CiliaCarta: An integrated and validated compendium of ciliary genes
van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, François, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A
Published in PloS one (16.05.2019)
Published in PloS one (16.05.2019)
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Banin, Eyal, Badano, Jose L, Zaghloul, Norann A, Eyaid, Wafaa, Stoetzel, Corinne, Rix, Suzanne, Diaz-Font, Anna, Beales, Philip L, Katsanis, Nicholas, Alfadhel, Majid, Dollfus, Helene, Leitch, Carmen C, Davis, Erica E, Lewis, Richard Alan
Published in Nature genetics (01.04.2008)
Published in Nature genetics (01.04.2008)
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Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
Schmidts, Miriam, Frank, Valeska, Eisenberger, Tobias, al Turki, Saeed, Bizet, Albane A., Antony, Dinu, Rix, Suzanne, Decker, Christian, Bachmann, Nadine, Bald, Martin, Vinke, Tobias, Toenshoff, Burkhard, Di Donato, Natalia, Neuhann, Theresa, Hartley, Jane L., Maher, Eamonn R., Bogdanović, Radovan, Peco-Antić, Amira, Mache, Christoph, Hurles, Matthew E., Joksić, Ivana, Guć-Šćekić, Marija, Dobricic, Jelena, Brankovic-Magic, Mirjana, Bolz, Hanno J., Pazour, Gregory J., Beales, Philip L., Scambler, Peter J., Saunier, Sophie, Mitchison, Hannah M., Bergmann, Carsten
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes
Teunis J P Van Dam, Kennedy, Julie, Van Der Lee, Robin, De Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michael R, Rim Hjeij, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, Jeroen Van Reeuwijk, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, Erwin Van Wijk, Fran ois K p s, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, Sylvia E C Van Beersum, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A
Published in bioRxiv (03.04.2017)
Published in bioRxiv (03.04.2017)
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CiliaCarta: An integrated and validated compendium of ciliary genes
Dam, Teunis J. P. Van, Kennedy, Julie, Lee, Robin van Der, Vrieze, Erik De, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard W., Lambacher, Nils J., Li, Chunmei M., Jensen, Victor L., Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, Reeuwijk, Jeroen Van, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., Wijk, Erwin Van, Kepes, François, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T., Letteboer, Stef J. F., Oud, Machteld M., Beersum, Sylvia E. C. Van, Schmidts, Miriam, Beales, Philip L., Lu, Qianhao H., Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Olivier E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A.
Published in PloS one (2019)
Published in PloS one (2019)
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Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions
May-Simera, Helen L., Ross, Alison, Rix, Suzanne, Forge, Andrew, Beales, Philip L., Jagger, Daniel J.
Published in Journal of comparative neurology (1911) (10.05.2009)
Published in Journal of comparative neurology (1911) (10.05.2009)
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BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Alan Lewis, Richard, Rossillion, Béatrice, Holder, Susan, Elcioglu, Nursel H, Davis, Erica E, Vicaire, Serge, Muller, Jean, Hamel, Christian, Leheup, Bruno, Beales, Philip L, Odent, Sylvie, Lacombe, Didier, Amati-Bonneau, Patrizia, Stoetzel, Corinne, Mandel, Jean-Louis, Holder, Muriel, Laurier, Virginie, Sarda, Pierre, Corbani, Sandra, Leitch, Carmen C, Salem, Nabiha, Badano, José L, Sigaudy, Sabine, Bonneau, Dominique, Verloes, Alain, Jalk, Nadine, Silva, Eduardo D, Rix, Suzanne, Chouery, Eliane, Katsanis, Nicholas, Brooks, Alice S, de Ravel, Thomy J L, Poch, Olivier, Dollfus, Hélène, Mégarbané, André
Published in Nature genetics (01.05.2006)
Published in Nature genetics (01.05.2006)
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Journal Article
Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Leitch, Carmen C, Zaghloul, Norann A, Davis, Erica E, Stoetzel, Corinne, Diaz-Font, Anna, Rix, Suzanne, Al-Fadhel, Majid, Lewis, Richard Alan, Eyaid, Wafaa, Banin, Eyal, Dollfus, Helene, Beales, Philip L, Badano, Jose L, Katsanis, Nicholas
Published in Nature genetics (01.07.2008)
Published in Nature genetics (01.07.2008)
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Journal Article
Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Leitch, Carmen C, Zaghloul, Norann A, Davis, Erica E, Stoetzel, Corinne, Diaz-Font, Anna, Rix, Suzanne, Al-Fadhel, Majid, Lewis, Richard Alan, Eyaid, Wafaa, Banin, Eyal, Dollfus, Helene, Beales, Philip L, Badano, Jose L, Katsanis, Nicholas
Published in Nature genetics (01.07.2008)
Published in Nature genetics (01.07.2008)
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Journal Article
Correction: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Leitch, Carmen C, Zaghloul, Norann A, Davis, Erica E, Stoetzel, Corinne, Diaz-Font, Anna, Rix, Suzanne, Al-Fadhel, Majid, Lewis, Richard Alan, Eyaid, Wafaa, Banin, Eyal, Dollfus, Helene, Beales, Philip L, Badano, Jose L, Katsanis, Nicholas
Published in Nature genetics (2008)
Published in Nature genetics (2008)
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Journal Article
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
BEALES, Philip L, BLAND, Elizabeth, JOHNSON, Colin, IRVING, Melita, ELCIOGLU, Nursel, WINEY, Mark, TADA, Masazumi, SCAMBLER, Peter J, TOBIN, Jonathan L, BACCHELLI, Chiara, TUYSUZ, Beyhan, HILL, Josephine, RIX, Suzanne, PEARSON, Chad G, KAI, Masatake, HARTLEY, Jane
Published in Nature genetics (2007)
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Published in Nature genetics (2007)
Journal Article
Erratum: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Stoetzel, Corinne, Laurier, Virginie, Davis, Erica E, Muller, Jean, Rix, Suzanne, Badano, José L, Leitch, Carmen C, Salem, Nabiha, Chouery, Eliane, Corbani, Sandra, Jalk, Nadine, Vicaire, Serge, Sarda, Pierre, Hamel, Christian, Lacombe, Didier, Holder, Muriel, Odent, Sylvie, Holder, Susan, Brooks, Alice S, Elcioglu, Nursel H, Silva, Eduardo D, Rossillion, Béatrice, Sigaudy, Sabine, de Ravel, Thomy J L, Lewis, Richard Alan, Leheup, Bruno, Verloes, Alain, Amati-Bonneau, Patrizia, Mégarbané, André, Poch, Olivier, Bonneau, Dominique, Beales, Philip L, Mandel, Jean-Louis, Katsanis, Nicholas, Dollfus, Hélène
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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Journal Article
Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Stoetzel, Corinne, Laurier, Virginie, Davis, Erica E, Muller, Jean, Rix, Suzanne, Badano, José L, Leitch, Carmen C, Salem, Nabiha, Chouery, Eliane, Corbani, Sandra, Jalk, Nadine, Vicaire, Serge, Sarda, Pierre, Hamel, Christian, Lacombe, Didier, Holder, Muriel, Odent, Sylvie, Holder, Susan, Brooks, Alice S, Elcioglu, Nursel H, Silva, Eduardo D, Rossillion, Béatrice, Sigaudy, Sabine, de Ravel, Thomy J L, Lewis, Richard Alan, Leheup, Bruno, Verloes, Alain, Amati-Bonneau, Patrizia, Mégarbané, André, Poch, Olivier, Bonneau, Dominique, Beales, Philip L, Mandel, Jean-Louis, Katsanis, Nicholas, Dollfus, Hélène
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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Journal Article
Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Holder, Susan, Mandel, Jean-Louis, Poch, Olivier, de Ravel, Thomy J L, Davis, Erica E, Sarda, Pierre, Hamel, Christian, Amati-Bonneau, Patrizia, Sigaudy, Sabine, Laurier, Virginie, Salem, Nabiha, Silva, Eduardo D, Lewis, Richard Alan, Beales, Philip L, Katsanis, Nicholas, Leitch, Carmen C, Brooks, Alice S, Jalk, Nadine, Leheup, Bruno, Dollfus, Hélène, Lacombe, Didier, Rix, Suzanne, Bonneau, Dominique, Rossillion, Béatrice, Badano, José L, Corbani, Sandra, Verloes, Alain, Elcioglu, Nursel H, Vicaire, Serge, Mégarbané, André, Muller, Jean, Odent, Sylvie, Stoetzel, Corinne, Chouery, Eliane, Holder, Muriel
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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