المؤلفون: Ellwanger, Kornelia, Brill, Julie A., de Boer, Elke, Efthymiou, Stephanie, Elgersma, Ype, Icmat, Marynelle, Lecoquierre, François, Lobato, Amanda G., Morleo, Manuela, Ori, Michela, Schaffer, Ashleigh E., Vitobello, Antonio, Wells, Sara, Yalcin, Binnaz, Zhai, R. Grace, Sturm, Marc, Zurek, Birte, Graessner, Holm, Bermejo-Sánchez, Eva, Evangelista, Teresinha, Hoogerbrugge, Nicoline, Nigro, Vincenzo, Schüle, Rebecca, Verloes, Alain, Brunner, Han, Campeau, Philippe M., Lasko, Paul, Riess, Olaf

المصدر: Ellwanger , K , Brill , J A , de Boer , E , Efthymiou , S , Elgersma , Y , Icmat , M , Lecoquierre , F , Lobato , A G , Morleo , M , Ori , M , Schaffer , A E , Vitobello , A , Wells , S , Yalcin , B , Zhai , R G , Sturm , M , Zurek , B , Graessner , H , Bermejo-Sánchez , E , Evangelista , T , Hoogerbrugge , N , Nigro , V , Schüle , R , Verloes , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/988cfd24-bc39-4601-9382-2c8adbe6fcbbTest

الإتاحة: https://doi.org/10.1038/s41684-024-01395-2Test
https://pure.eur.nl/en/publications/988cfd24-bc39-4601-9382-2c8adbe6fcbbTest
https://pure.eur.nl/ws/files/156546379/Model_matchmaking_via_the_Solve-RD_Rare_Disease_Models_Mechanisms_Network_RDMM-Europe_.pdfTest
http://www.scopus.com/inward/record.url?scp=85196915167&partnerID=8YFLogxKTest

المؤلفون: Feldkamp, Marcia L., Canfield, Mark A., Krikov, Sergey, Prieto-Merino, David, Šípek, Antonin, LeLong, Nathalie, Amar, Emmanuelle, Rissmann, Anke, Csaky-Szunyogh, Melinda, Tagliabue, Giovanna, Pierini, Anna, Gatt, Miriam, Bergman, Jorieke E.H., Szabova, Elena, Bermejo-Sánchez, Eva, Tucker, David, Dastgiri, Saeed, Bidondo, María Paz, Canessa, Aurora, Zarante, Ignacio, Hurtado-Villa, Paula, Martinez, Laura, Mutchinick, Osvaldo M., Camelo, Jorge Lopez, Benavides-Lara, Adriana, Thomas, Mary Ann, Liu, Shiliang, Nembhard, Wendy N., Gray, Elizabeth B., Nance, Amy E., Mastroiacovo, Pierpaolo, Botto, Lorenzo D.

المصدر: Feldkamp , M L , Canfield , M A , Krikov , S , Prieto-Merino , D , Šípek , A , LeLong , N , Amar , E , Rissmann , A , Csaky-Szunyogh , M , Tagliabue , G , Pierini , A , Gatt , M , Bergman , J E H , Szabova , E , Bermejo-Sánchez , E , Tucker , D , Dastgiri , S , Bidondo , M P , Canessa , A , Zarante , I , Hurtado-Villa , P , Martinez , L , Mutchinick , O M , Camelo ....

مصطلحات موضوعية: gastroschisis, geographic region, multinational, prevalence, surveillance

العلاقة: https://research.rug.nl/en/publications/7a4fe1e6-0930-4367-bbbb-a9f2f898915dTest

الإتاحة: https://doi.org/10.1002/bdr2.2306Test
https://hdl.handle.net/11370/7a4fe1e6-0930-4367-bbbb-a9f2f898915dTest
https://research.rug.nl/en/publications/7a4fe1e6-0930-4367-bbbb-a9f2f898915dTest
http://www.scopus.com/inward/record.url?scp=85186453746&partnerID=8YFLogxKTest

المؤلفون: Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

المساهمون: Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluí, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, Mccabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

مصطلحات موضوعية: Cell Biology, Genetic, Lipid raft, Neurodevelopment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36976648; info:eu-repo/semantics/altIdentifier/wos/WOS:000998178800003; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11577/3479047Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159733545

الإتاحة: https://doi.org/10.1172/JCI165019Test
https://hdl.handle.net/11577/3479047Test

المؤلفون: Kancherla, Vijaya, Sundar, Manasvi, Lucita, Tandaki, Lux, Anke, Bakker, Marian K., Bergman, Jorieke E.H., Bermejo-Sánchez, Eva, Canfield, Mark A., Dastgiri, Saeed, Feldkamp, Marcia L., Gatt, Miriam, Groisman, Boris, Hurtado-Villa, Paula, Kallen, Kärin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Martinez, Laura Elia, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Nance, Amy E., Nembhard, Wendy N., Pierini, Anna, Sipek, Antonin, Stallings, Erin B., Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Zarante, Ignacio, Rissmann, Anke

المصدر: Kancherla , V , Sundar , M , Lucita , T , Lux , A , Bakker , M K , Bergman , J E H , Bermejo-Sánchez , E , Canfield , M A , Dastgiri , S , Feldkamp , M L , Gatt , M , Groisman , B , Hurtado-Villa , P , Kallen , K , Landau , D , Lelong , N , Lopez-Camelo , J , Martinez , L E , Mastroiacovo , P , Morgan , M , Mutchinick , O M , Nance , A E , Nembhard , W ....

مصطلحات موضوعية: anorectal atresia, birth defect, epidemiology, mortality, prevalence

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/3f4b2fbc-e541-424c-b2e1-b1d87cc1e8f8Test

الإتاحة: https://doi.org/10.1002/bdr2.2129Test
https://hdl.handle.net/11370/3f4b2fbc-e541-424c-b2e1-b1d87cc1e8f8Test
https://research.rug.nl/en/publications/3f4b2fbc-e541-424c-b2e1-b1d87cc1e8f8Test
https://pure.rug.nl/ws/files/258421737/Birth_Defects_Research_2022_Kancherla_Prevalence_and_mortality_among_children_with_anorectal_malformation_A.pdfTest

المؤلفون: Onken, Marlies, Lohse, Lukas, Coulm, Bénédicte, Beghin, Delphine, Richardson, Jonathan L, Bermejo-Sanchez, Eva, Aguilera, Cristina, Bosch, Montserrat, Cassina, Matteo, Chouchana, Laurent, De Santis, Marco, Duman, Mine Kadioglu, Gören, M Zafer, Johnson, Diana, Bera, Annie Pierre Jonville, Kaplan, Yusuf C, Kennedy, Debra, Kwok, Susan, Lacroix, Isabelle, Lepelley, Marion, Pistelli, Alessandra, Schaefer, Christof, Te Winkel, Bernke, Uysal, Nusret, Winterfeld, Ursula, Yakuwa, Naho, Diav-Citrin, Orna, Vial, Thierry, Dathe, Katarina

المساهمون: Federal Institute for Drugs and Medical Devices (Alemania), UK Health Security Agency (Reino Unido), Ministry of Health Welfare and Sport (Países Bajos), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España)

مصطلحات موضوعية: Congenital Abnormalities, Drug-Related Side Effects and Adverse Reactions, Growth and Development, Modafinil, Pregnancy

العلاقة: https://doi.org/10.1111/acps.13643Test; Acta Psychiatr Scand. 2023 Dec 18.; http://hdl.handle.net/20.500.12105/17379Test; Acta psychiatrica Scandinavica

الإتاحة: https://doi.org/20.500.12105/17379Test
https://doi.org/10.1111/acps.13643Test
https://hdl.handle.net/20.500.12105/17379Test

المؤلفون: Bakker, Marian K., Kancherla, Vijaya, Canfield, Mark A., Bermejo-Sanchez, Eva, Cragan, Janet D., Dastgiri, Saeed, De Walle, Hermien E.K., Feldkamp, Marcia L., Groisman, Boris, Gatt, Miriam, Hurtado-Villa, Paula, Kallen, Karin, Landau, Daniella, Lelong, Nathalie, Lopez Camelo, Jorge S., Martínez, Laura, Morgan, Margery, Mutchinick, Osvaldo M., Nembhard, Wendy N., Pierini, Anna, Rissmann, Anke, Sipek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Zarante, Ignacio, Mastroiacovo, Pierpaolo

المصدر: Paediatric and Perinatal Epidemiology eSSENCE: The e-Science Collaboration EpiHealth: Epidemiology for Health. 33(6):436-448

مصطلحات موضوعية: epidemiology, mortality, registry-based study, spina bifida, Medicin och hälsovetenskap, Klinisk medicin, Pediatrik, Medical and Health Sciences, Clinical Medicine, Pediatrics, Hälsovetenskap, Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi, Health Sciences, Public Health, Global Health, Social Medicine and Epidemiology

الوصول الحر: https://lup.lub.lu.se/record/1c95bc12-7f67-437d-b3f5-5b27d0f9cd6fTest
http://dx.doi.org/10.1111/ppe.12589Test

المؤلفون: Salinas-Vilca, Ana, Cuevas Catalina, María Lourdes, ECEMC Peripheral Group, Bermejo-Sanchez, Eva, Galan, Iñaki

المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Fundación 1000 sobre Defectos Congénitos

مصطلحات موضوعية: Pregnancy, Risk factors, Smoking, Spain, Trends, Alcohol Drinking, Female, Humans, Infant, Newborn, Tobacco Use

العلاقة: https://doi.org/10.1093/pubmed/fdaa277Test; J Public Health (Oxf). 2022 Jun 27;44(2):438-446.; http://hdl.handle.net/20.500.12105/17259Test; Journal of public health (Oxford, England)

الإتاحة: https://doi.org/20.500.12105/17259Test
https://doi.org/10.1093/pubmed/fdaa277Test
https://hdl.handle.net/20.500.12105/17259Test

المؤلفون: Baladron-Jimenez, Beatriz Isabel, Mielu, Lidia M, Lopez-Martin, Estrella, Barrero, Maria J, Lopez, Lidia, Alvarado, Jose I, Monzon-Fernandez, Sara, Varona Fernandez, Sarai, Cuesta de la Plaza, Isabel, Cazorla, Rosario, Lara, Julián, Iglesias, Gemma, Román, Enriqueta, Ros, Purificación, Gomez-Mariano, Gema Maria, Cubillo, Isabel, Hernandez-Sanmiguel, Esther, Rivera, Daniel, Alonso, Javier, Bermejo-Sanchez, Eva, Posada De la Paz, Manuel, Martinez-Delgado, Beatriz

المساهمون: Instituto de Salud Carlos III

مصطلحات موضوعية: IQSEC2 gene, Neurodevelopment syndrome, Exome, Transcript isoforms, Intron variant, Gene expression, Spain UDP, Guanine Nucleotide Exchange Factors, Intellectual Disability, Neurodevelopmental Disorders, Female, Humans, Male, Mutation, Pedigree, Phenotype, Protein Isoforms, Whole Exome Sequencing

العلاقة: Publisher's version; https://doi.org/10.3390/ijms23169480Test; info:eu-repo/grantAgreement/ES/PT20CIII/00009; Int J Mol Sci. 2022 Aug 22;23(16):9480.; http://hdl.handle.net/20.500.12105/15045Test; International journal of molecular sciences

الإتاحة: https://doi.org/20.500.12105/15045Test
https://doi.org/10.3390/ijms23169480Test
https://hdl.handle.net/20.500.12105/15045Test

المؤلفون: Morris, Joan K., Addor, Marie-Claude, Ballardini, Elisa, Barisic, Ingeborg, Barrachina-Bonet, Laia, Braz, Paula, Cavero-Carbonell, Clara, Den Hond, Elly, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Lelong, Nathalie, Kinsner-Ovaskainen, Agnieszka, Kiuru-Kuhlefelt, Sonja, Klungsoyr, Kari, Latos-Bielenska, Anna, Limb, Elizabeth, O'Mahony, Mary T., Perthus, Isabelle, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Sayers, Gerardine, Sipek, Antonin, Stevens, Sarah, Tucker, David, Verellen-Dumoulin, Christine, de Walle, Hermien E.K., Wellesley, Diana, Wertelecki, Wladimir, Bermejo-Sanchez, Eva

مصطلحات موضوعية: Neural Tube Defects (NTD), Folic Acid, Europe, Portugal, EUROCAT, European Surveillance of Congenital Anomalies, RENAC, Registo Nacional de Anomalias Congénitas, Estados de Saúde e de Doença, Observação em Saúde e Vigilância

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.647038/fullTest; Front Pediatr. 2021 Jun 24;9:647038. doi:10.3389/fped.2021.647038; http://hdl.handle.net/10400.18/7916Test

الإتاحة: https://doi.org/10.3389/fped.2021.647038Test
http://hdl.handle.net/10400.18/7916Test

المؤلفون: Morris, Joan K., Addor, Marie-Claude, Ballardini, Elisa, Barisic, Ingeborg, Barrachina-Bonet, Laia, Braz, Paula, Cavero-Carbonell, Clara, den Hond, Elly, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Lelong, Nathalie, Kinsner-Ovaskainen, Agnieszka, Kiuru-Kuhlefelt, Sonja, Klungsoyr, Kari, Latos-Bielenska, Anna, Limb, Elizabeth, O'Mahony, Mary T., Perthus, Isabelle, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Sayers, Gerardine, Sipek, Antonin, Stevens, Sarah, Tucker, David, Verellen-Dumoulin, Christine, de Walle, Hermien E. K., Wellesley, Diana, Wertelecki, Wladimir, Bermejo-Sanchez, Eva

المساهمون: St George's, University of London, Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Università degli Studi di Ferrara = University of Ferrara (UniFE), University of Zagreb, Biomedical Research Institute Valencia, Spain (INCLIVA ), Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA), Provincial Institute of Hygiene Antwerp, Belgium (PIH), Lillebaelt Hospital Kolding, Denmark (LH), Directorate for Health Information and Research Pietà, Malta (DHIR), Medical University Graz, Obstetrical, Perinatal and Pediatric Epidemiology, Centre for Research in Epidemiology and Statistics, Conservatoire National des Arts et Métiers CNAM (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers CNAM (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), European Commission - Joint Research Centre Ispra (JRC), Finnish Institute for Health and Welfare (FIHW), University of Bergen (UiB), Norwegian Institute of Public Health Oslo (NIPH), St. Finbarr's Hospital Cork, Ireland (StFH), CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, Institute of Clinical Physiology, CNR, Newcastle University Newcastle, Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University Magdeburg (OVGU), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Health Intelligence Ltd., Medicine Charles University and General Faculty Hospital in Prague, Public Health England London, Singleton Hospital, Centre de Génétique Humaine Charleroi, Belgium (Institut de Pathologie et de Génétique), Institut de Pathologie et de Génétique, Charleroi, University of Groningen Groningen, Princess Anne Hospital Southampton, UK (PAH), University of Southampton, OMNI-Net Ukraine Programs Rivne, Ukraine, Instituto de Salud Carlos III Madrid (ISC)

المصدر: ISSN: 2296-2360 ; Frontiers in Pediatrics ; https://hal.science/hal-03341170Test ; Frontiers in Pediatrics, 2021, 9, pp.647038. ⟨10.3389/fped.2021.647038⟩.

مصطلحات موضوعية: neural tube defects, prevention, folic acid, fortification, Europe, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34249803; hal-03341170; https://hal.science/hal-03341170Test; https://hal.science/hal-03341170/documentTest; https://hal.science/hal-03341170/file/pdfTest; PUBMED: 34249803; PUBMEDCENTRAL: PMC8264257; WOS: 000670566000001

الإتاحة: https://doi.org/10.3389/fped.2021.647038Test
https://hal.science/hal-03341170Test
https://hal.science/hal-03341170/documentTest
https://hal.science/hal-03341170/file/pdfTest