Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Borde, Patricia"'
Autor:
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.
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://ul.qucosa.de/id/qucosa%3A85163
https://ul.qucosa.de/api/qucosa%3A85163/attachment/ATT-0/
https://ul.qucosa.de/api/qucosa%3A85163/attachment/ATT-0/
Autor:
Scalais, Emmanuel, Geron, Christine, Pierron, Charlotte, Cardillo, Sandra, Schlesser, Vincent, Mataigne, Frédéric, Borde, Patricia, Regal, Luc
Publikováno v:
In Molecular Genetics and Metabolism November 2023 140(3)
Autor:
Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni, Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, Osredkar, Damjan
Publikováno v:
In Neuromuscular Disorders June 2021 31(6):574-582
Autor:
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, Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (1), pp.67-78. ⟨10.1038/s41431-020-00716-6⟩
European Journal of Human Genetics, 29(1), 67-78. Nature Publishing Group
Eur J Hum Genet
Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee 2021, ' Regulatory landscape of providing information on newborn screening to parents across Europe ', European Journal of Human Genetics, vol. 29, no. 1, pp. 67-78 . https://doi.org/10.1038/s41431-020-00716-6
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (1), pp.67-78. ⟨10.1038/s41431-020-00716-6⟩
European Journal of Human Genetics, 29(1), 67-78. Nature Publishing Group
Eur J Hum Genet
Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee 2021, ' Regulatory landscape of providing information on newborn screening to parents across Europe ', European Journal of Human Genetics, vol. 29, no. 1, pp. 67-78 . https://doi.org/10.1038/s41431-020-00716-6
Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f843368f9a6852b0b411d4955f565d13
https://www.hal.inserm.fr/inserm-03274425
https://www.hal.inserm.fr/inserm-03274425
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kebbabi, Clément, Debaugnies, France, Genuit, Isabelle, Goetzinger, Frank, Gofinet, Justine, Borde, Patricia
Publikováno v:
In Toxicologie Analytique et Clinique September 2022 34(3) Supplement:S51-S52
Autor:
Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, Gassen, Koen L. I., Heuvel, L. Bert, De Meirleir, Linda
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Sep2019, Vol. 49 Issue 1, p70-79, 10p
Autor:
Franková V; Department of Paediatrics and Inherited Metabolic Disorders, Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic. vera.frankova@lf1.cuni.cz.; Institute for Medical Humanities, Charles University First Faculty of Medicine, Prague, Czech Republic. vera.frankova@lf1.cuni.cz., Driscoll RO; Department of Paediatrics and Inherited Metabolic Disorders, Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Jansen ME; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands., Loeber JG; International Society for Neonatal Screening Office, Bilthoven, The Netherlands., Kožich V; Department of Paediatrics and Inherited Metabolic Disorders, Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic. viktor.kozich@vfn.cz., Bonham J; Division of Pharmacy, Diagnostics and Genetics, Sheffield Children's NHS Foundation Trust, Sheffiled, UK., Borde P; Laboratoire National de Santé, Dudelange, Luxembourg., Brincat I; Mater Dei Hospital, Imsida, Malta., Cheillan D; Hospices Civils de Lyon, Lyon, France., Dekkers E; RIVM Centre for Population Screening, Bilthoven, The Netherlands., Fingerhut R; University Children's Hospital Zurich, Zurich, Switzerland., Kuš IB; University Hospital Centre, Zagreb, Croatia., Girginoudis P; Institute Child Health, Athens, Greece., Groselj U; UMC-University Children's Hospital, Ljubljana, Slovenia., Hougaard D; Statens Serum Institute, Copenhagen, Denmark., Knapková M; Children's University Hospital, Banska Bystrica, Slovakia., la Marca G; Meyer Children's University Hospital Tuscany, Florence, Italy., Malniece I; Children's University Hospital Riga, Riga, Latvia., Nanu MI; National Health Programs Management Unit of National Institute for Mother & Child Health, Bucharest, Romania., Nennstiel U; Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany., Olkhovych N; National Children's Hospital OHMATDYT, Kiev, Ukraine., Oltarzewski M; Institute of Mother and Child, Warsaw, Poland., Pettersen RD; Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway., Racz G; Department of Paediatrics, University of Szeged, Szeged, Hungary., Reinson K; Tartu University Hospital, Tartu, Estonia., Salimbayeva D; Scientific centre of Gynaecology, Obstetrics and Perinatology, Almaty, Kazakhstan., Songailiene J; Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania., Vilarinho L; National Institute of Health Dr Ricardo Jorge, Porto, Portugal., Vogazianos M; Centre for Preventive Paediatrics, Limassol, Cyprus., Zetterström RH; Centre for inherited metabolic diseases, Karolinska University Hospital, Solna, Sweden., Zeyda M; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jan; Vol. 29 (1), pp. 67-78. Date of Electronic Publication: 2020 Oct 10.