A test of the role of stimulus-response and stimulus-outcome associations in the effects of intermittent-access training von Beasley, Madeline M., Pilz, Emma M., Kearns, David N.

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Patient‐reported outcome measures for emotional functioning in cancer patients: Content comparison of the EORTC CAT Core, FACT‐G, HADS, SF‐36, PRO‐CTCAE, and PROMIS instruments... von Rothmund, Maria, Pilz, Micha J., Egeter, Nathalie, Lidington, Emma, Piccinin, Claire, Arraras, Juan I., Grønvold, Mogens, Holzner, Bernhard, Leeuwen, Marieke, Petersen, Morten Aa, Schmidt, Heike, Young, Teresa, Giesinger, Johannes M.

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Content comparison of the EORTC CAT Core, SF-36, FACT-G, and PROMIS role and social functioning measures based on the International Classification of Functioning, Disability and He... von Pilz, Micha J, Rothmund, Maria, Lidington, Emma, Piccinin, Claire, Arraras, Juan I, Groenvold, Mogens, Holzner, Bernhard, van Leeuwen, Marieke, Petersen, Morten Aa, Schmidt, Heike, Young, Teresa, Giesinger, Johannes M

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Comparing the contents of patient-reported outcome measures for fatigue: EORTC CAT Core, EORTC QLQ-C30, EORTC QLQ-FA12, FACIT, PRO-CTCAE, PROMIS, Brief Fatigue Inventory, Multidime... von Rothmund, Maria, Pilz, Micha J, Egeter, Nathalie, Lidington, Emma, Piccinin, Claire, Arraras, Juan I, Groenvold, Mogens, Holzner, Bernhard, van Leeuwen, Marieke, Petersen, Morten Aa, Ramage, John, Schmidt, Heike, Young, Teresa, Giesinger, Johannes M

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Evidence for 28 genetic disorders discovered by combining healthcare and research data von Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care von Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

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Fatal police violence by race and state in the USA, 1980–2019: a network meta-regression

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Further delineation of the KAT6B molecular and phenotypic spectrum von Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections von Mis, Emily K., Brodsky, Nina N., Ionita, Cristian, Darbinyan, Armine, Drummond-Borg, Margaret, McGee, Elisabeth, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Sapp, Katie, McKee, Shane, Rea, Gillian, Cooper, Nicola, O’Driscoll, Mary, Scurr, Ingrid, Abbs, Steve, Armstrong, Ruth, Raymond, Lucy, Green, Andrew, Cleary, Elaine, Lampe, Anne, Castle, Bruce, Loughlin, Sam, Izatt, Louise, Roworth, Wendy, Yau, Shu, Jewell, Rosalyn, Sarkar, Ajoy, Canham, Natalie, Burkitt-Wright, Emma, Jones, Elizabeth, Smith, Audrey, Wright, Ronnie, Henderson, Alex, Allen, Zoe, Bernhard, Birgitta, Busby, Louise, Clowes, Virginia, Blair, Edward, Stewart, Alison, Kamath, Arveen, Halai, D., Holman, J.E., Jackson, R., Lopez, F.J., Rogers, T., Savage, K., Sieghart, A., Thomas, E.R.A., Thompson, S.R., Tucci, A., Alejandro, Mercedes E., Amendola, Laura, Andrews, Ashley, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bamshad, Michael, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Coakley, Terra R., Coggins, Matthew, Cooper, Cynthia M., Cunningham, Michael, Dai, Hongzheng, Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Hahn, Sihoun, Hanchard, Neil A., Hayes, Nichole, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Jamal, Fariha, Kennedy, Jennifer, LeBlanc, Kimberly, Macnamara, Ellen F., Maduro, Valerie V., Mak, Bryan, McCauley, Jacob, McGee, Elisabeth, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Pace, Laura, Potocki, Lorraine, Quinlan, Aaron, Raja, Archana N., Robertson, Amy K., Rodan, Lance H., Saporta, Mario, Schaechter, Judy, Signer, Rebecca, Solem, Emily, Solnica-Krezel, Lilianna, Sutton, Shirley, Velinder, Matt, Wheeler, Matthew T., Khokha, Mustafa K.

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Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA von van Kogelenberg, Margriet, Clark, Alice R., Jenkins, Zandra, Morgan, Tim, Anandan, Ananda, Sawyer, Gregory M., Edwards, Matthew, Dudding, Tracy, Homfray, Tessa, Castle, Bruce, Tolmie, John, Stewart, Fiona, Kivuva, Emma, Pilz, Daniela T., Gabbett, Michael, Sutherland-Smith, Andrew J., Robertson, Stephen P.

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Genome-Wide Association Study Identifies 3 Genomic Loci Significantly Associated With Serum Levels of Homoarginine: The AtheroRemo Consortium von Kleber, Marcus E, Seppälä, Ilkka, Pilz, Stefan, Hoffmann, Michael M, Tomaschitz, Andreas, Oksala, Niku, Raitoharju, Emma, Lyytikäinen, Leo-Pekka, Mäkelä, Kari-Matti, Laaksonen, Reijo, Kähönen, Mika, Raitakari, Olli T, Huang, Jie, Kienreich, Katharina, Fahrleitner-Pammer, Astrid, Drechsler, Christiane, Krane, Vera, Boehm, Bernhard O, Koenig, Wolfgang, Wanner, Christoph, Lehtimäki, Terho, März, Winfried, Meinitzer, Andreas

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Prevalence and architecture of de novo mutations in developmental disorders von Clayton, Stephen, Tivey, Adrian, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Connell, Fiona C, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Donnelly, C, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fry, Andrew E, Fryer, Alan, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Jarvis, Joanna, Jenkins, Lucy, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kirk, Claire, Kumar, Dhavendra, Kumar, V. K. Ajith, Lynch, Sally A, Maher, Eddy, Mansour, Sahar, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McNerlan, Susan, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma K, Mohammed, Shehla, Moore, David, Morton, Jenny E, Norman, Andrew, Ogilvie, Caroline, Parker, Michael J, Payne, Stewart J, Perrett, Daniel, Pilz, Daniela T, Pratt, Norman, Price, Sue, Pridham, Abigail, Procter, Annie M, Ragge, Nicola, Randall, Joshua, Rice, Debbie, Roberts, Eileen, Ross, Alison, Rosser, Elisabeth, Sandford, Richard, Schweiger, Susann, Shaw-Smith, Charles, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Straub, Volker, Swaminathan, Ganesh Jawahar, Tatton-Brown, Kate, Taylor, Rohan, Temple, I. Karen, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Vandersteen, Anthony, Vogt, Julie, Wellesley, Diana, Wilkinson, Emily, Woods, Geoff, Wright, Michael, Yates, Laura, Firth, Helen V, FitzPatrickd, David R

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Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis von BLAKELY, Emma L, RENNIE, Katherine J, TAYLOR, Robert W, JONES, Linda, ELSTNER, Mattias, HRZANOWSKA-LIGHTOWLERS, Zofia M. A. C, WHITE, Christopher B, SHIELD, Julian P. H, PILZ, Daniela T, TURNBULL, Douglass M, POULTON, Joanna

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Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution von Breen, Maria, Deakln, Lisa, Macdonald, Bernard, Miller, Steve, Sibson, Ross, Tarttelln, Emma, Avner, Philip, Bourgade, Franck, Guenet, Jean-Louis, Montagutelli, Xavler, Polrier, Christophe, Simon, Dominique, Tailor, Dillp, Bishop, Martin, Kelly, Maria, Rysavy, Francis, Rastan, Sohaila, Norris, Dominic, Shepherd, David, Abbott, Cathy, Pllz, Alison, Hodge, Sarah, Jackson, Ian, Boyd, Yvonne, Blair, Helen, Maslen, Gareth, A.Todd, John, W.Reed, Peter, Stoye, Jonathan, Ashworth, Alan, McCarthy, Linda, Cox, Roger, Schalkwyk, Leo, Lehrach, Hans, Klose, Joachim, Gangadharan, Uma, Brown, Steve

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