المؤلفون: Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschuentzsch, Jana, Zuccolo, Michela, Muellenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Huebner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats G., 1952, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farne, Marianna, Fortunato, Fernanda, Ferlini, Alessandra

المصدر: PLOS ONE. 18(11)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-521890
https://doi.org/10.1371/journal.pone.0293503
https://uu.diva-portal.org/smash/get/diva2:1834587/FULLTEXT01.pdf

المؤلفون: Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela

المصدر: Orphanet Journal of Rare Diseases; 10/4/2023, Vol. 18 Issue 1, p1-4, 4p

مصطلحات موضوعية: GENETIC testing, NEWBORN screening, RARE diseases, MEDICAL sciences, GENETIC disorders, REVERSE genetics, NUCLEOTIDE sequencing

الشركة/الكيان: EUROPEAN Union

المؤلفون: Atkins, Leon^Aff18, Aupy, Guillaume^Aff19, Cole, Daniel^Aff20, Pruhs, Kirk^Aff21

المساهمون: Hutchison, David, Series editor^Aff1, Kanade, Takeo, Series editor^Aff2, Kittler, Josef, Series editor^Aff3, Kleinberg, Jon M., Series editor^Aff4, Mattern, Friedemann, Series editor^Aff5, Mitchell, John C., Series editor^Aff6, Naor, Moni, Series editor^Aff7, Nierstrasz, Oscar, Series editor^Aff8, Pandu Rangan, C., Series editor^Aff9, Steffen, Bernhard, Series editor^Aff10, Sudan, Madhu, Series editor^Aff11, Terzopoulos, Demetri, Series editor^Aff12, Tygar, Doug, Series editor^Aff13, Vardi, Moshe Y., Series editor^Aff14, Weikum, Gerhard, Series editor^Aff15, Marchetti-Spaccamela, Alberto, editor^Aff16, Segal, Michael, editor^Aff17

المصدر: Theory and Practice of Algorithms in (Computer) Systems : First International ICST Conference, TAPAS 2011, Rome, Italy, April 18-20, 2011. Proceedings. 6595:9-20