Treffer 1 - 15 von 15 für Suche 'Mueller, Rita U.', Suchdauer: 1,02s Treffer weiter einschränken
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    Phenotypes Determined by Cluster Analysis and Their Survival in the Prospective European Scleroderma Trials and Research Cohort of Patients With Systemic Sclerosis von Allanore, Yannick, Riemekasten, Gabriela, Vettori, Serena, Matucci‐Cerinic, Marco, Launay, David, Walker, Ulrich, Lapadula, Giovanni, Sierakowsky, Stanislaw, Siegert, Elise, Nicoara, Ileana, Kahan, André, Carreira, Patricia E., Novak, Srdan, Varju, Cecilia, Chizzolini, Carlo, Widuchowska, Malgorzata, Rozman, Blaz, Mallia, Carmel, Wu, Chen, Hij, Darin, Dhamadi, Roza, Wollheim, Frank, Wuttge, Dirk M., Andréasson, Kristofer, Martinovic, Duska, Balbir‐Gurman, Alexandra, Braun‐Moscovici, Yolanda, Lo Monaco, Andrea, Caramaschi, Paola, Henes, Jörg, Santamaria, Vera Ortiz, Heitmann, Stefan, Krasowska, Dorota, Himsel, Andrea, Da Silva, José Antonio Pereira, Stamenkovic, Bojana, Tikly, Mohammed, Tarner, Ingo, Damgaard, Kirsten, Mendoza, Antonio Zea, Sifuentes Giraldo, WA, Midtvedt, Øyvind, Riccieri, Valeria, Ionescu, Ruxandra Maria, Opris, Daniela, Groseanu, Laura, Cornateanu, Roxana Sfrent, Ionitescu, Razvan, Gherghe, Ana Maria, Gorga, Marilena, Bojinca, Mihai, Distler, Jörg H. W., Beyer, Christian, Meroni, Pierluigi, Ingegnoli, Francesca, Mouthon, Luc, De Keyser, Filip, Smith, Vanessa, Corrado, Ada, Pozzi, Maria R., Eyerich, Kilian, Knott, Elisabeth, Wiland, Piotr, Szmyrka‐Kaczmarek, Magdalena, Morgiel, Ewa, Krummel‐Lorenz, Brigitte, Günther, Claudia, Souza Müller, Carolina, Azevedo, Valderílio F., Groppa, Liliana, Chiaburu, Lealea, Russu, Eugen, Zenone, Thierry, Stebbings, Simon, Highton, John, Stamp, Lisa, Solanki, Kamal, Doube, Alan, Loyo, Esthela, Li, Mengtao, Rosato, Edoardo, Amoroso, Antonio, Tanaseanu, Cristina‐Mihaela, Dumitrascu, Alina, Foti, Rosario, Chirieac, Rodica, Ancuta, Codrina, Villiger, Peter, Adler, Sabine, Rubio, Silvia Rodriguez, Exposito, Marta Valero, Chatelus, Emmanuel, Chifflot, Hélène, Butrimiene, Irena, Rugiene, Rita, Karpec, Diana, Montoya, Fabiana, Limonta, Massimiliano, Brucato, Antonio Luca, Spertini, François


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    Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy von Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Lam, Tanya, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Bartels, Claudius, Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Tucci, A., Watters, S.A., Welland, M.J., Williams, E., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger

    Veröffentlicht in Genetics in medicine

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    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study von Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

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    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study von Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

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