المؤلفون: Scalais, Emmanuel, Geron, Christine, Pierron, Charlotte, Cardillo, Sandra, Schlesser, Vincent, Mataigne, Frédéric, Borde, Patricia, Regal, Luc

المصدر: In Molecular Genetics and Metabolism November 2023 140(3)

المؤلفون: 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

المصدر: In Neuromuscular Disorders June 2021 31(6):574-582

المؤلفون: Debaugnies, France^{Aff1, Aff2}, Mahadeb, Bhavna, Nagant, Carole, Meuleman, Nathalie, De Bels, David, Wolff, Fleur, Gottignies, Philippe, Salaroli, Adriano, Borde, Patricia, Voué, Michel, Corazza, Francis^{Aff1, Aff4}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(3):658-665

المؤلفون: 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.

المصدر: International Journal of Neonatal Screening, 7 (1) (2021)

مصطلحات موضوعية: ISNS, International Society for Neonatal Screening, congenital endocrine disorders, congenital metabolic disorders, dried blood spot screening, neonatal screening, newborn screening, public health, rare diseases, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:2409-515X

URL الوصول: https://orbi.uliege.be/handle/2268/262885

المؤلفون: 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

المساهمون: CarMeN, laboratoire, First Faculty of Medicine Charles University [Prague], National Institute for Public Health and the Environment [Bilthoven] (RIVM), International Society for Neonatal Screening Office [Bilthoven, The Netherlands] (ISNSO), Sheffield Children's NHS Foundation Trust, Mater Dei Hospital [Malta], Hospices Civils de Lyon (HCL), University Children’s Hospital Zurich, University Hospital Centre Zagreb, Partenaires INRAE, Institute of Child Health [Athens, Greece], University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Statens Serum Institute [Copenhagen], Matej Bel University (UMB), Children's University Hospital [Banska Bystrica, Slovakia] (CUH-BB), Azienda Ospedaliero Universitaria A. Meyer [Firenze, Italy], Children's Clinical University Hospital [Riga, Latvia] (CCUH), National Institute for Mother & Child Health [Bucharest, Romania] (NIMCH), Bavarian Health and Food Safety Authority [Oberschleißheim, Germany], National Children's Specialized Hospital 'Okhmatdyt' [Kiev, Ukraine] (NCSHO), National Research Institute of Mother and Child [Warsaw, Poland], Oslo University Hospital [Oslo], University of Szeged [Szeged], Tartu University Hospital [Tartu, Estonia], Scientific centre of Gynaecology, Obstetrics and Perinatology [Almaty, Kazakhstan] (SGOP), International Science and Technology Center [Almaty, Kazakhstan] ( ISTC), Vilnius University [Vilnius], Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal] (INSA), Limassol General Hospital, Karolinska University Hospital [Solna, Sweden] (KUH), Medizinische Universität Wien = Medical University of Vienna, Human genetics, APH - Quality of Care

المصدر: 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

مصطلحات موضوعية: Male, Parents, European level, Best practice, [SDV]Life Sciences [q-bio], MEDLINE, Disclosure, Guidelines, Article, Public healthcare, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Surveys and Questionnaires, 030225 pediatrics, Genetics, Humans, European Union, Genetic Testing, 030212 general & internal medicine, Genetics (clinical), Medical education, Newborn screening, Infant, Newborn, food and beverages, Organizational Policy, 3. Good health, Doenças Genéticas, Europe, [SDV] Life Sciences [q-bio], Practice Guidelines as Topic, embryonic structures, Female, Sample collection, Business, Newborn Screening

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f843368f9a6852b0b411d4955f565d13
https://www.hal.inserm.fr/inserm-03274425

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المؤلفون: Kebbabi, Clément, Debaugnies, France, Genuit, Isabelle, Goetzinger, Frank, Gofinet, Justine, Borde, Patricia

المصدر: In Toxicologie Analytique et Clinique September 2022 34(3) Supplement:S51-S52

المؤلفون: Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, De Meirleir, Linda

URL: http://hdl.handle.net/1874/392170
2192-8304
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المؤلفون: Genetica Sectie Genoomdiagnostiek, Child Health, Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, De Meirleir, Linda

URL: https://doi.org/10.1002/jmd2.12055
http://hdl.handle.net/1874/392170
https://dspace.library.uu.nl/handle/1874/392170
2192-8304
JIMD Reports
49
1
70
79