Výsledky vyhledávání - Saggar, Anand

Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study Autor McGovern, Andrew P, Jones, Simon, van Vlymen, Jeremy, Saggar, Anand K, Sandford, Richard, de Lusignan, Simon

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Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype Autor Christodoulou, Loucas, Krishnaiah, Anil, Spyridou, Christina, Salpietro, Vincenzo, Hannan, Siobhan, Saggar, Anand, Mankad, Kshitij, Deep, Akash, Kinali, Maria

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FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome Autor Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.

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FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome Autor Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes Autor Perrino, Peter A., Talbot, Lidiya, Kirkland, Rose, Hill, Amanda, Rendall, Amanda R., Mountford, Hayley S., Taylor, Jenny, Buscarello, Alexzandrea N., Lahiri, Nayana, Saggar, Anand, Fitch, R. Holly, Newbury, Dianne F.

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Mutations in Pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalling Autor Griffith, Elen, Walker, Sarah, Martin, Carol-Anne, Vagnarelli, Paola, Stiff, Tom, Vernay, Bertrand, Al Sanna, Nouriya, Saggar, Anand, Hamel, Ben, Earnshaw, William C., Jeggo, Penny A., Jackson, Andrew P., O'Driscoll, Mark

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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome Autor Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals Autor Kharbanda, Mira, Pilz, Daniela T, Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R, Kinning, Esther

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Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for cl... Autor Wai, Htoo A., Constable, Matthew, Drewes, Cosima, Davies, Ian C., Svobodova, Eliska, Dempsey, Esther, Saggar, Anand, Homfray, Tessa, Mansour, Sahar, Douzgou, Sofia, Barr, Kate, Mercer, Catherine, Hunt, David, Douglas, Andrew G. L., Baralle, Diana

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Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence Autor Dunlop, Elaine A, Dodd, Kayleigh M, Land, Stephen C, Davies, Peter A, Martins, Nicole, Stuart, Helen, McKee, Shane, Kingswood, Chris, Saggar, Anand, Corderio, Isabel, Medeira, Ana Maria Duarte, Kingston, Helen, Sampson, Julian R, Davies, David Mark, Tee, Andrew R

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X-linked cataract and Nance-Horan syndrome are allelic disorders Autor Coccia, Margherita, Brooks, Simon P., Webb, Tom R., Christodoulou, Katja, Wozniak, Izabella O., Murday, Victoria, Balicki, Martha, Yee, Harris A., Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K., Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J., Maher, Eamonn R., Moore, Anthony T., Russell-Eggitt, Isabelle M., Hardcastle, Alison J.

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Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome Autor Salpietro, Vincenzo, Lin, Weichun, Vedove, Andrea Delle, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel‐Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde, Houlden, Henry

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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A Autor Reinstein, Eyal, Frentz, Sophia, Morgan, Tim, García-Miñaúr, Sixto, Leventer, Richard J, McGillivray, George, Pariani, Mitchel, van der Steen, Anthony, Pope, Michael, Holder-Espinasse, Muriel, Scott, Richard, Thompson, Elizabeth M, Robertson, Terry, Coppin, Brian, Siegel, Robert, Bret Zurita, Montserrat, Rodríguez, Jose I, Morales, Carmen, Rodrigues, Yuri, Arcas, Joaquín, Saggar, Anand, Horton, Margaret, Zackai, Elaine, Graham, John M, Rimoin, David L, Robertson, Stephen P

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly Autor Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O’Driscoll, Mark, Mirzaa, Ghayda M

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Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum Autor Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B., Barrow, Margaret, Bláhová, Kvĕta, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dötsch, Jörg, Gajjar, Priya, Hennekam, Raoul C., Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J., Koenig, Jens, Kogan, Jillene, Kroes, Hester Y., Kuwertz-Bröking, Eberhard, Lewanda, Amy F., Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wühl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Autor Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.

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Urinary Tract Effects of HPSE2 Mutations Autor Stuart, Helen M., Roberts, Neil A., Hilton, Emma N., McKenzie, Edward A., Daly, Sarah B., Hadfield, Kristen D., Rahal, Jeffery S., Gardiner, Natalie J., Tanley, Simon W., Lewis, Malcolm A., Sites, Emily, Angle, Brad, Alves, Cláudia, Lourenço, Teresa, Rodrigues, Márcia, Calado, Angelina, Amado, Marta, Guerreiro, Nancy, Serras, Inês, Beetz, Christian, Varga, Rita-Eva, Silay, Mesrur Selcuk, Darlow, John M., Dobson, Mark G., Barton, David E., Hunziker, Manuela, Puri, Prem, Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Lambert, Heather J., Cordell, Heather J., Saggar, Anand, Kinali, Maria, Lorenz, Christian, Moeller, Kristina, Schaefer, Franz, Bayazit, Aysun K., Weber, Stefanie, Newman, William G., Woolf, Adrian S.

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants Autor Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna, Bewicke-Copley, Findlay, Armes, Hannah, Barnett, Michael, Bloor, Adrian, Bödör, Csaba, Bowen, David, Fenaux, Pierre, Green, Andrew, Hallahan, Andrew, Hjorth-Hansen, Henrik, Hossain, Upal, Killick, Sally, Lawson, Sarah, Layton, Mark, Male, Alison M., Marsh, Judith, Mehta, Priyanka, Mous, Rogier, Nomdedéu, Josep F., Owen, Carolyn, Pavlu, Jiri, Payne, Elspeth M., Protheroe, Rachel E., Preudhomme, Claude, Pujol-Moix, Nuria, Renneville, Aline, Russell, Nigel, Saggar, Anand, Sciuccati, Gabriela, Taussig, David, Toze, Cynthia L., Uyttebroeck, Anne, Vandenberghe, Peter, Schlegelberger, Brigitte, Ripperger, Tim, Steinemann, Doris, Wu, John, Mason, Joanne, Page, Paula, Akiki, Susanna, Reay, Kim, Cavenagh, Jamie D., Plagnol, Vincent, Caceres, Javier F., Fitzgibbon, Jude, Dokal, Inderjeet

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