Reliability of Neonatal Screening Results

per Knapkova, Maria, Hall, Kate, Loeber, Gerard
Publicat a 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

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

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

per 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
Publicat a JIMD Rep (2020)

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

per 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
Publicat a Eur J Hum Genet (2020)

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

per 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.
Publicat a Int J Neonatal Screen (2021)