Reliability of Neonatal Screening Results

Bằng Knapkova, Maria, Hall, Kate, Loeber, Gerard
Xuất bản năm Int J Neonatal Screen (2018)

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Bằng Lisyová, Jana, Chandoga, Ján, Jungová, Petra, Repiský, Marcel, Knapková, Mária, Machková, Martina, Dluholucký, Svetozár, Behúlová, Darina, Šaligová, Jana, Potočňáková, Ľudmila, Lysinová, Miroslava, Böhmer, Daniel
Xuất bản năm BMC Med Genet (2018)

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Bằng Václavík, Jan, Mádrová, Lucie, Kouřil, Štěpán, de Sousa, Julie, Brumarová, Radana, Janečková, Hana, Jáčová, Jaroslava, Friedecký, David, Knapková, Mária, Kluijtmans, Leo A. J., Grünert, Sarah C., Vaz, Frédéric M., Janzen, Nils, Wanders, Ronald J. A., Wevers, Ron A., Adam, Tomáš
Xuất bản năm JIMD Rep (2020)

Regulatory landscape of providing information on newborn screening to parents across Europe

Bằng Franková, Věra, Driscoll, Riona O., Jansen, Marleen E., Loeber, J. Gerard, Kožich, Viktor, Bonham, James, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Fingerhut, Ralph, Kuš, Iva Bilandžija, Girginoudis, Panagiotis, Groselj, Urh, Hougaard, David, Knapková, Mária, la Marca, Giancarlo, Malniece, Ieva, Nanu, Michaela Iuliana, Nennstiel, Uta, Olkhovych, Nataliia, Oltarzewski, Mariusz, Pettersen, Rolf D., Racz, Gabor, Reinson, Karit, Salimbayeva, Damilya, Songailiene, Jurgita, Vilarinho, Laura, Vogazianos, Marios, Zetterström, Rolf H., Zeyda, Maximilian
Xuất bản năm Eur J Hum Genet (2020)

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Bằng Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O’Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C.J.I.
Xuất bản năm Int J Neonatal Screen (2021)