Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Lin, Sheng-Jia, Orr, David, Holden, Simon, Harrison, Mike, Burrows, Nigel, Petree, Cassidy, Donnelly, Deirdre, Ambrose, J.C., Arumugam, P., Boardman-Pretty, F., Chan, G.C., Henderson, S., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Lopez, F.J., Maleady-Crowe, F., O‘Donovan, P., Patch, C., Pereira, M.B., Rahim, T., Savage, K., Sieghart, A., Taylor Tavares, A.L., Thomas, E.R.A., Tucci, A., Welland, M.J., Williams, E., Zurek, Birte, Demidov, German, Schulze-Hentrich, Julia M., Kessler, Christoph, Traschütz, Andreas, Schöls, Ludger, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, van Os, Nienke, Janssen, Erik, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Mehtarizadeh, Mehdi, Töpf, Ana, Banka, Siddharth, Faivre, Laurence, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Laurie, Steven, Matalonga, Leslie, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Hanauer, Marc, Havrylenko, Svitlana, Izem, Katia, Nelson, Isabelle, Eymard, Bruno, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremlik, Vlastimil, Parkinson, Helen, Robinson, Peter, Hanna, Mike, Houlden, Henry, Vandrovcova, Jana, Muntoni, Francesco, Sarkozy, Anna, Van de Vondel, Liedewei, Banfi, Sandro, Aretz, Stefan, Spier, Isabel, José, Celina São, Ferreira, Marta, Carneiro, Fátima, Johansson, Lennart, van der Vries, Gerben, Roelofs-Prins, Dieuwke, Castello, Raffaele, Morleo, Manuela, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Renieri, Alessandra, Benetti, Elisa, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Polavarapu, Kiran, Beeson, David, Udd, Bjarne, Holinski-Feder, Elke, Steinke-Lange, Verena, Schröck, Evelin, Varshney, Gaurav K.
Published in HGG advances (13.04.2023)
Published in HGG advances (13.04.2023)
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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
Shoemark, Amelia, Griffin, Helen, Wheway, Gabrielle, Hogg, Claire, Lucas, Jane S, Camps, Carme, Taylor, Jenny, Carroll, Mary, Loebinger, Michael R, Chalmers, James D, Morris-Rosendahl, Deborah, Mitchison, Hannah M, De Soyza, Anthony, Brown, D, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M
Published in The European respiratory journal (01.11.2022)
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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Niggl, Eva, Elgersma, Minetta, Clayton-Smith, Jill, Jain, Mahim, Krantz, Ian, Vetrini, Francesco, Witt, Dennis, Zhou, Dihong, Arumugam, P., Boardman-Pretty, F., Brown, M.A., Chan, G.C., Henderson, S., Kayikci, M., Kousathanas, A., Lahnstein, L., Maleady-Crowe, F., McEntagart, M., Minneci, F., O‘Donovan, P., Pereira, M.B., Rahim, T., Savage, K., Sawant, K., Smith, S.C., Sosinsky, A., Tucci, A., Williams, E., Alvey, Justin, Andrews, Ashley, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Bejerano, Gill, Bican, Anna, Bivona, Stephanie, Bonner, Devon, Burke, Elizabeth A., Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Corona, Rosario, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Fisher, Paul G., Fu, Jiayu, Gahl, William A., Hamid, Rizwan, Hassey, Kelly, Huang, Yan, Introne, Wendy, Izumi, Kosuke, Jean-Marie, Orpa, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kohane, Isaac S., Krakow, Deborah, Lewis, Richard A., Loscalzo, Joseph, Maghiro, AudreyStephannie, Mahoney, Rachel, Mao, Rong, Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mirzaa, Ghayda, Morava, Eva, Morimoto, Marie, Nelson, Stanley F., Novacic, Donna, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rossignol, Francis, Schaechter, Judy, Shashi, Vandana, Shin, Jimann, Sinsheimer, Janet, Solnica-Krezel, Lilianna, Sullivan, Kathleen, Tan, Amelia L., Tarakad, Arjun, Telischi, Fred, Urv, Tiina K., Wahl, Colleen E., Wan, Jijun
Published in American journal of human genetics (03.08.2023)
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Del Sant, L.C., Magalhães, E., Lucchese, A.C., Alves, H.N. Palhares, Sarin, L.M., Del Porto, J.A., Lacerda, A.L. Tavares de
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Vieira, C.A.M., Arruda, M.P., Tavares, A.L.
Published in Revista Gestão, finanças e contabilidade (04.03.2016)
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Therapeutic Effect of Aquatic Resistance Exercise on Rectus Femoris and Knee in a Model of Rheumatoid Arthritis
de Freitas Tavares, A.L., Neves, M., Schnauffer, T.C., de Araújo Pradal, L., Stein da Silva Leal, T., de Fátima Chasko Ribeiro, L., Flor Bertolini, G.R.
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Multivariate analysis of the water quality variation in the Serra da Estrela (Portugal) Natural Park as a consequence of road deicing with salt
Rodrigues, Pedro M.S.M., Rodrigues, Ricardo M.M., Costa, Bruno H.F., Tavares Martins, António A.L., Esteves da Silva, Joaquim C.G.
Published in Chemometrics and intelligent laboratory systems (01.07.2010)
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