المؤلفون: Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millán, José M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela

المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto, Sanz, Pascual, Rubio, Vicente, Llácer, José L.

مصطلحات موضوعية: Biomedical Research, Epidemiology, Novel genes, Research network, New therapeutic approaches, Rare diseases, Rare Diseases, Diagnòstic, Diagnosis, Genetics, Humans, Malalties rares, Epidemiologia, Genètica, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93fead1dadb5a73f22a40461461f8d0d
https://hdl.handle.net/20.500.12105/15884

المؤلفون: Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network, Lapunzina P

المصدر: CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: research network, new therapeutic approaches, rare diseases, genetics, novel genes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::4b10b8486ea59fb51a54ee16d2bf73b8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20655

المؤلفون: Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, de Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millan, Jose M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa M., Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero, Rosa, Jiménez-Estrada, Juan Andrés, Manguán García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Heredia, Miguel, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela

المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], Llácer, José L. [0000-0001-5304-1795]

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Novel genes, Genetics, Research network, New therapeutic approaches, Rare diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::56378410f9d57cdfcd1c700d6521c17c
http://hdl.handle.net/10261/270407

المؤلفون: Sandoval-Talamantes AK; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Tenorio-Castaño JA; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain., Santos-Simarro F; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain., Adán C; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Fernández-Elvira M; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., García-Fernández L; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Muñoz Y; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Lapunzina P; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain., Nevado J; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain.

المصدر: Genes [Genes (Basel)] 2023 Nov 17; Vol. 14 (11). Date of Electronic Publication: 2023 Nov 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/diagnosis , Autism Spectrum Disorder*/genetics, Humans ; Tertiary Care Centers ; Prospective Studies ; In Situ Hybridization, Fluorescence ; High-Throughput Nucleotide Sequencing