Reduction of nitro- and nitroso-compounds by tervalent phosphorus reagents. Part X. Ring expansion to give 2-diethylamino-3H-azepines von de Boer, Thymen, Cadogan, J. I. G., McWilliam, Helen M., Rowley, Alan G.

Volltext

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

Volltext

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain von Laskowski, Roman A, Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M, Firth, Helen V, Wright, Caroline F

Volltext

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders von Faundes, Víctor, Demos, Michelle K., Goldman, Amy, Lehman, Anna, McKee, Shane, Morton, Jenny, Rankin, Julia, Temple, I. Karen, Adam, Shelin, van Karnebeek, Clara, Aitken, Stuart, Alvi, Mohsan, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Mason, Laura E., Tivey, Adrian R., Ahmed, Munaza, Balasubramanian, Meena, Barnicoat, Angela, Bitner-Glindzicz, Maria, Bourdon, Louise, Bradley, Lisa, Burn, John, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Crow, Yanick, Dabir, Tabib, Davidson, Rosemarie, de Vries, Dylan, Deshpande, Charu, Dixit, Abhijit, Dobbie, Angus, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Flinter, Frances, Foulds, Nicola, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Greene, Philip, Gribble, Susan, Holder, Muriel, Hollingsworth, Georgina, Ingram, Stuart, Jenkins, Lucy, Joss, Shelagh, Kerr, Bronwyn, Kini, Usha, Kraus, Alison, Lachlan, Katherine, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, Middleton, Anna, Mohammed, Shehla, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Samant, Shalaka, Selby, Ann, Sequeira, Cheryl, Shears, Debbie, Smith, Audrey, Smith, Kath, Splitt, Miranda, Squires, Miranda, Tomkins, Susan, Treacy, Becky, Tysoe, Carolyn, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Whiteford, Margo, Wilcox, Sarah, Wilkinson, Emily, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R.

Volltext

Adding 6 months of androgen deprivation therapy to postoperative radiotherapy for prostate cancer: a comparison of short-course versus no androgen deprivation therapy in the RADICA... von Hoskin, Peter, Herasimtschuk, Anna, Pickering, Holly, Rauchenberger, Mary, Brown, Teddy, Smith, Margaret, Coventry, Thomas, Ford, Victoria, Krysta, Beata, Robertson, Bryony, Cousins, Jane, Zarkar, Anjali, Kedge, Liz, Flavin, Aileen, Metcalf, Karen, Teo, Mark, Hollister, Robert, Wheeler, Lucie, Brain, Carol, Treasure, Ann, Mazhar, Danish, Ramanujachar, Ramya, Appleby, Bonny, Galante, Joao, Skelton, Amy, Martindale, John, Penhaligon, Corrine, Javle, P, Taylor, Jennifer, Forman, Susan, Roantree, Alison, Stone, Sarah, Hughes, Robert, Stapleton, Stephanie, Brown, Sandra, Doughty, Victoria, Lister, Debbie, Young, Sally, Bermingham, Nicola, Sadare (Olaleye), Ibiyemi, Balogun, Shaki, Hijab, Adham, Nawrozzadeh, Mohammed, Patel, Priyanka, Thomson, Sister Jane, Kuenzig, Greg, Neave, Farhad, Storrs, Sarah, Riches, Oscar, Agdiran, Didem, Mitra, Anita, Collins, Gerald, Hardstaff, Lisa, Choudhury, Ananya, Partington, Lillian, Birch, Richard, London, Clare, Hodson, Hayley, Lydon, Anne Marie, Wadsworth, Oliver, Campbell, Allister, Dallas, Nicola, Darch, Flora, Mahoney, Sue, Corcoran, Sam, Johnstone, Maria, Taylor, Becky, Millage, Helen, Bowling, Lorna, Fallah, Fereshteh, Harvey, Sally, Holbrook, Andy, Raftery, Liz, Moller Christensen, Trine, Pokhrel, Sujata, Lavertu, Sophie, Trudel, Diane, Murtha, Albert, Dugas, Stevie, Moffatt, Emily, Dayes, Ian S, Creelman, Brianna, Opitz, Debbie, Edwards, Jackie, Shantz, Brenda S, Eichenberger, Lois, Mayer, Heather, Lachance, Nicole, Albrecht, Virginia, Singson, Angelina, Somasiri, Ashane, Haddad, Alain, Pochini, Craig, Danjoux, Cyril, Escueta, Vivette, Leung, Michael, Tseng, Eric Chia Lin, Muraj, Zaynab, Nichol, Rhonda, Rudnicki, Rayleen

Volltext

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy von Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

Volltext

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia von Reich, Adi, Cross, J. Helen, Scheffer, Ingrid E., Krishnappa, Netravathi, Awada, Jana, Baralle, Diana, Bernhard, Birgitta, Clasper, Susan, Clayton-Smith, Jill, Cresswell, Lara, Donaldson, Alan, Ellis, Ian, Gaunt, Lorraine, He, Liu, Hewitt, Sarah, Hurst, Jane, Kirk, Claire, Kivuva, Emma, Kumar, Dhavendra, Mansour, Sahar, McCann, Emma, McKee, Shane, Mugalaasi, Hood, Murphy, Helen, Newbury-Ecob, Ruth, Pilz, Daniela T., Pollard, Martin, Pridham, Abigail, Saggar, Anand, Scott, Richard, Shearing, Emma, Smithson, Sarah, Sneddon, Linda, Suri, Mohnish, Tatton-Brown, Kate, Thomson, Jenny, Torokwa, Audrey, Varghese, Vinod, Yau, Michael, Artigas, Maria Soler, Boustred, Chris, Evans, David, Flicek, Paul, Hart, Deborah, Langford, Cordelia, Lawson, Daniel, Li, Rui, O'Donnovan, Michael, Parker, Victoria, Parr, Jeremy R., Paunio, Tiina, Rehnström, Karola, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Williamson, Kathleen A., Wong, Kim, Alachkar, Hana, Ambegaonkar, Gautum, Attwood, Antony, Austin, Steve, Bennett, David, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bradley, John R., Browning, Michael, Clement, Emma, Doffinger, Rainer, Drewe, Elizabeth, Frary, Amy, Ghataorhe, Pavandeep K., Greenhalgh, Alan, Hackett, Scott, Hadinnapola, Charaka, Heemskerk, Johan W.M., Humbert, Marc, James, Roger, Krishnakumar, Deepa, Lawrie, Allan, Lentaigne, Claire, Maimaris, Jesmeen, Maw, Anna, Megy, Karyn, Moledina, Shahin, Morrell, Nicholas, Nejentsev, Sergey, Polwarth, Gary, Quinti, Isabella, Raymond, F. Lucy, Samarghitean, Crina, Sanchis-Juan, Alba, Southgate, Laura, Stauss, Hans, Thrasher, Adrian, Trembath, Richard, Turro, Ernest, Williamson, Catherine, Yeatman, Nigel, Millichap, John J.

Volltext

International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative von Oldroyd, Alexander G. S., Callen, Jeffrey P., Chinoy, Hector, Chung, Lorinda, Fiorentino, David, Gordon, Patrick, Machado, Pedro M., McHugh, Neil, Selva-O’Callaghan, Albert, Schmidt, Jens, Tansley, Sarah L., Vleugels, Ruth Ann, Werth, Victoria P., Aggarwal, Rohit

Volltext

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome von Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

Volltext

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.

Volltext

Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations von Krings, T, Kim, H, Power, S, Nelson, J, Faughnan, M E, Young, W L, terBrugge, K G

Volltext

Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia von Beslow, Lauren A., Vossough, Arastoo, Kim, Helen, Nelson, Jeffrey, Lawton, Michael T., Pollak, Jeffrey, Lin, Doris D. M., Ratjen, Felix, Hammill, Adrienne M., Hetts, Steven W., Gossage, James R., Whitehead, Kevin J., Faughnan, Marie E., Krings, Timo

Volltext

De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia von Beslow, Lauren A., Krings, Timo, Kim, Helen, Hetts, Steven W., Lawton, Michael T., Ratjen, Felix, Whitehead, Kevin J., Gossage, James R., McCulloch, Charles E., Clancy, Marianne, Bagheri, Negar, Faughnan, Marie E., Atherton, Mary E., Chakinala, Murali M., Clancy, Marianne S., Faughnan, Marie E., Gossage, James R., Hammill, Adrienne M., Henderson, Katharine, Hetts, Steven, Hountras, Peter, Iyer, Vivek, Kasthuri, Raj S., Kim, Helen, Krings, Timo, Lawton, Michael T., Lin, Doris, Mager, Johannes Jurgen, Marchuk, Douglas A., McWilliams, Justin P., McDonald, Jamie, Pawlikowska, Ludmila, Pollak, Jeffrey, Ratjen, Felix, Swanson, Karen, Vethanayagam, Dilini, Weinsheimer, Shantel, White, Andrew J., Whitehead, Kevin J., Wilcox, Pearce

Volltext

Persistent Food Allergy and Food Allergy Coexistent with Eczema Is Associated with Reduced Growth in the First 4 Years of Life von Beck, Cara, PhD, Koplin, Jennifer, PhD, Dharmage, Shyamali, MBBS, MSc, MD, PhD, Wake, Melissa, MBBS, MD, Gurrin, Lyle, PhD, McWilliam, Vicki, BSc, MND, Tang, Mimi, MBBS, PhD, Sun, Cong, MD, PhD, Foskey, Rebecca, BMedSci, MBBS, Allen, Katrina J., MBBS, BMedSc, PhD

Volltext

Quantification metrics for telangiectasia using optical coherence tomography von Cardinell, Jillian L., Ramjist, Joel M., Chen, Chaoliang, Shi, Weisong, Nguyen, Nhu Q., Yeretsian, Tiffany, Choi, Matthew, Chen, David, Clark, Dewi S., Curtis, Anne, Kim, Helen, Faughnan, Marie E., Yang, Victor X. D.

Volltext

Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia von Thompson, K P, Nelson, J, Kim, H, Weinsheimer, S M, Marchuk, D A, Lawton, M T, Krings, T, Faughnan, M E

Volltext

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia von Thompson, K P, Nelson, J, Kim, H, Pawlikowska, L, Marchuk, D A, Lawton, M T, Faughnan, Marie E

Volltext

Podocytopathy in primary renal failure and de-novo membranous nephropathy post transplantation von Lennon, Rachel, Dr, McKenzie, Edward, PhD, Caswell, Patrick, PhD, Urquhart, Jill, MD, Daly, Sarah, MD, Stuart, Helen, MD, McWilliam, Lorna, MD, Roberts, Ian, MD, Schiffer, Mario, Prof, Brenchley, Paul, Prof

Volltext

Author Correction: International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS)... von Oldroyd, Alexander G. S., Callen, Jeffrey P., Chinoy, Hector, Chung, Lorinda, Fiorentino, David, Gordon, Patrick, Machado, Pedro M., McHugh, Neil, Selva-O’Callaghan, Albert, Schmidt, Jens, Tansley, Sarah L., Vleugels, Ruth Ann, Werth, Victoria P., Aggarwal, Rohit

Volltext

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

Volltext