12,478 results for genotype–phenotype

12,478 results for genotype–phenotype

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    Books

    Author / Creator:International Symposium on Mucopolysaccharine and Related Diseases (4th : 1996 : Wollongong, N.S.W.)
    Publisher:Loftus, N.S.W. : Mucopolysaccharide & Related Diseases Society Aust. Ltd., [1996]
    Date:[1996]
    Call Numbers:NQ616.042/5
    For use in the Library

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    Journals

    Publisher:London : BioMed Central, 2010-
    Date:2010-

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    Journals

    Publisher:New York : NPG, 2012-2018.[Philadelphia, PA] : Taylor & Francis
    Date:2012-2018.

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    ArticlesPeer ReviewedFull Text

    Author / Creator:Lipska, Beata S. ; Ranchin, Bruno ; Iatropoulos, Paraskevas ; Gellermann, Jutta ; Melk, Anette ; Ozaltin, Fatih ; Caridi, Gianluca ; Seeman, Tomas ; Tory, Kalman ; Jankauskiene, Augustina ; Zurowska, Aleksandra ; Szczepanska, Maria ; Wasilewska, Anna ; Harambat, Jerome ; Trautmann, Agnes ; Peco-Antic, Amira ; Borzecka, Halina ; Moczulska, Anna ; Saeed, Bassam ; Bogdanovic, Radovan ; Kalyoncu, Mukaddes ; Simkova, Eva ; Erdogan, Ozlem ; Vrljicak, Kristina ; Teixeira, Ana ; Azocar, Marta ; Schaefer, Franz
    Publisher:United States: Elsevier Inc
    Journal title:Kidney international, 2014-05, Vol.85 (5), p.1169-1178
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    ArticlesPeer ReviewedFull Text

    Author / Creator:Van Mossevelde, Sara ; Engelborghs, Sebastiaan ; van der Zee, Julie ; Van Broeckhoven, Christine
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature reviews. Neurology, 2018-06, Vol.14 (6), p.363-378
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    ArticlesPeer ReviewedFull Text

    Author / Creator:Brookes, Anthony J. ; Robinson, Peter N.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature reviews. Genetics, 2015-12, Vol.16 (12), p.702-715
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    Author / Creator:Rana, Huma Q. ; Clifford, Jacob ; Hoang, Lily ; LaDuca, Holly ; Black, Mary Helen ; Li, Shuwei ; McGoldrick, Kelly ; Speare, Virginia ; Dolinsky, Jill S. ; Gau, Chia-Ling ; Garber, Judy E.
    Journal title:Genetics in medicine, 2019-11, Vol.21 (11), p.2478-2484
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    Author / Creator:Fattori, Fabiana ; Maggi, Lorenzo ; Bruno, Claudio ; Cassandrini, Denise ; Codemo, Valentina ; Catteruccia, Michela ; Tasca, Giorgio ; Berardinelli, Angela ; Magri, Francesca ; Pane, Marika ; Rubegni, Anna ; Santoro, Lucio ; Ruggiero, Lucia ; Fiorini, Patrizio ; Pini, Antonella ; Mongini, Tiziana ; Messina, Sonia ; Brisca, Giacomo ; Colombo, Irene ; Astrea, Guja ; Fiorillo, Chiara ; Bragato, Cinzia ; Moroni, Isabella ; Pegoraro, Elena ; D’Apice, Maria Rosaria ; Alfei, Enrico ; Mora, Marina ; Morandi, Lucia ; Donati, Alice ; Evilä, Anni ; Vihola, Anna ; Udd, Bjarne ; Bernansconi, Pia ; Mercuri, Eugenio ; Santorelli, Filippo Maria ; Bertini, Enrico ; D’Amico, Adele
    Journal title:Journal of neurology, 2015-05, Vol.262 (7), p.1728-1740
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    Author / Creator:White, Désirée ; Rabago-Smith, Montserrat
    Journal title:Journal of human genetics, 2011-01, Vol.56 (1), p.5-7
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    Author / Creator:de Guimaraes, Thales A C ; Georgiou, Michalis ; Robson, Anthony G ; Fujinami, Kaoru ; Vincent, Ajoy ; Nasser, Fadi ; Khateb, Samer ; Mahroo, Omar A ; Pontikos, Nikolas ; Vargas, Maurício E ; Thiadens, Alberta A H J ; Carvalho, Emanuel R de ; Nguyen, Xuan-Than-An ; Arno, Gavin ; Fujinami-Yokokawa, Yu ; Liu, Xiao ; Tsunoda, Kazushige ; Hayashi, Takaaki ; Jiménez-Rolando, Belén ; Martin-Merida, Maria Inmaculada ; Avila-Fernandez, Almudena ; Salas, Ester Carreño ; Garcia-Sandoval, Blanca ; Ayuso, Carmen ; Sharon, Dror ; Kohl, Susanne ; Huckfeldt, Rachel M ; Banin, Eyal ; Pennesi, Mark E ; Khan, Arif O ; Wissinger, Bernd ; Webster, Andrew R ; Heon, Elise ; Boon, Camiel J F ; Zrenner, Eberhard ; Michaelides, Michel
    Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
    Journal title:British journal of ophthalmology, 2024-08, Vol.108 (8), p.1137-1144
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    Author / Creator:Andrews, Katrina A ; Ascher, David B ; Pires, Douglas Eduardo Valente ; Barnes, Daniel R ; Vialard, Lindsey ; Casey, Ruth T ; Bradshaw, Nicola ; Adlard, Julian ; Aylwin, Simon ; Brennan, Paul ; Brewer, Carole ; Cole, Trevor ; Cook, Jackie A ; Davidson, Rosemarie ; Donaldson, Alan ; Fryer, Alan ; Greenhalgh, Lynn ; hodgson, Shirley V ; Irving, Richard ; Lalloo, Fiona ; McConachie, Michelle ; McConnell, Vivienne P M ; Morrison, Patrick J ; Murday, Victoria ; Park, Soo-Mi ; Simpson, Helen L ; Snape, Katie ; Stewart, Susan ; Tomkins, Susan E ; Wallis, Yvonne ; Izatt, Louise ; Goudie, David ; Lindsay, Robert S ; Perry, Colin G ; Woodward, Emma R ; Antoniou, Antonis C ; Maher, Eamonn R
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2018-06, Vol.55 (6), p.384-394
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    Author / Creator:Vasilyeva, Tatyana A. ; Marakhonov, Andrey V. ; Voskresenskaya, Anna A. ; Kadyshev, Vitaly V. ; Käsmann-Kellner, Barbara ; Sukhanova, Natella V. ; Katargina, Lyudmila A. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2021-04, Vol.58 (4), p.270-274
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    Author / Creator:Ritchie, Marylyn D. ; Holzinger, Emily R. ; Li, Ruowang ; Pendergrass, Sarah A. ; Kim, Dokyoon
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature reviews. Genetics, 2015-02, Vol.16 (2), p.85-97
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    Author / Creator:CHANOCK, Stephen J ; MANOLIO, Teri ; BROOKS, Lisa D ; CARDON, Lon R ; DALY, Mark ; DONNELLY, Peter ; FRAUMENI, Joseph F ; FREIMER, Nelson B ; GERHARD, Daniela S ; GUNTER, Chris ; GUTTMACHER, Alan E ; GUYER, Mark S ; BOEHNKE, Michael ; HARRIS, Emily L ; HOH, Josephine ; HOOVER, Robert ; KONG, C. Augustine ; MERIKANGAS, Kathleen R ; MORTON, Cynthia C ; PALMER, Lyle J ; PHIMISTER, Elizabeth G ; RICE, John P ; ROBERTS, Jerry ; BOERWINKLE, Eric ; ROTIMI, Charles ; TUCKER, Margaret A ; VOGAN, Kyle J ; WACHOLDER, Sholom ; WIJSMAN, Ellen M ; WINN, Deborah M ; COLLINS, Francis S ; HUNTER, David J ; THOMAS, Gilles ; HIRSCHHORN, Joel N ; ABECASIS, Goncalo ; ALTSHULER, David ; BAILEY-WILSON, Joan E
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2007-06, Vol.447 (7145), p.655-660
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    Author / Creator:Amato, Roberto, Dr ; Lim, Pharath, MD ; Miotto, Olivo, PhD ; Amaratunga, Chanaki, PhD ; Dek, Dalin, MSc ; Pearson, Richard D, PhD ; Almagro-Garcia, Jacob, MSc ; Neal, Aaron T, PhD ; Sreng, Sokunthea ; Suon, Seila, MD ; Drury, Eleanor, BSc[Hons] ; Jyothi, Dushyanth, MPhil ; Stalker, Jim, MA ; Kwiatkowski, Dominic P, FRCP ; Fairhurst, Rick M, Dr
    Publisher:United States: Elsevier Ltd
    Journal title:The Lancet infectious diseases, 2017-02, Vol.17 (2), p.164-173
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    Author / Creator:Fan, Yu ; Xu, Yuming ; Shi, Changhe
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2022-01, Vol.59 (1), p.1-9
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    Author / Creator:Yonova-Doing, Ekaterina ; Calabrese, Claudia ; Gomez-Duran, Aurora ; Schon, Katherine ; Wei, Wei ; Karthikeyan, Savita ; Chinnery, Patrick F. ; Howson, Joanna M. M.
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2021-07, Vol.53 (7), p.982-993
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    Author / Creator:Thiel, Moritz ; Bamborschke, Daniel ; Janzarik, Wibke G. ; Assmann, Birgit ; Zittel, Simone ; Patzer, Steffi ; Auhuber, Andrea ; Opp, Joachim ; Matzker, Eva ; Bevot, Andrea ; Seeger, Juergen ; van Baalen, Andreas ; Stüve, Burkhard ; Brockmann, Knut ; Cirak, Sebahattin ; Koy, Anne
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of neurology, neurosurgery and psychiatry, 2023-10, Vol.94 (10), p.806-815
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