المؤلفون: Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès, Mencía de Lemus, Basil T. Darras, Eduardo F. Tizzano

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100825- (2023)

مصطلحات موضوعية: Communication of diagnosis, Genetic counseling, Psychological impact, Spinal muscular atrophy, Treatment decision making, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008348; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/f8742aa22bde4db0a7bae2b364dd1ee9

المؤلفون: Sara Álvaro-Sánchez, Irene Abreu-Rodríguez, Anna Abulí, Clara Serra-Juhe, Maria del Carmen Garrido-Navas

المصدر: Diagnostics, Vol 11, Iss 12, p 2320 (2021)

مصطلحات موضوعية: genetic counselling, rare diseases, professional recognition, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/11/12/2320; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/91e5386a0e194e548c93dafb14fce9e4

المؤلفون: Anna Abulí, Antoni Castells, Luis Bujanda, Juan José Lozano, Xavier Bessa, Cristina Hernández, Cristina Álvarez-Urturi, Maria Pellisé, Clara Esteban-Jurado, Elizabeth Hijona, Andrea Burón, Francesc Macià, Jaume Grau, Rafael Guayta, Sergi Castellví-Bel, Montserrat Andreu, PROCOLON research group

المصدر: PLoS ONE, Vol 11, Iss 4, p e0153084 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4831735?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/31f74295138046c88a01528f00aae889

المؤلفون: Anna Abulí, Luis Bujanda, Jenifer Muñoz, Stephan Buch, Clemens Schafmayer, Maria Valeria Maiorana, Silvia Veneroni, Tom van Wezel, Tao Liu, Helga Westers, Clara Esteban-Jurado, Teresa Ocaña, Josep M Piqué, Montserrat Andreu, Rodrigo Jover, Angel Carracedo, Rosa M Xicola, Xavier Llor, Antoni Castells, EPICOLON Consortium, Malcolm Dunlop, Robert Hofstra, Annika Lindblom, Juul Wijnen, Paolo Peterlongo, Jochen Hampe, Clara Ruiz-Ponte, Sergi Castellví-Bel

المصدر: PLoS ONE, Vol 9, Iss 4, p e95022 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3990597?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/346b83e22aca4a92b69ec2e743525b29

المؤلفون: Ceres Fernández-Rozadilla, Luisa de Castro, Juan Clofent, Alejandro Brea-Fernández, Xavier Bessa, Anna Abulí, Montserrat Andreu, Rodrigo Jover, Rosa Xicola, Xavier Llor, Antoni Castells, Sergi Castellví-Bel, Angel Carracedo, Clara Ruiz-Ponte, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association

المصدر: PLoS ONE, Vol 5, Iss 9, p e815 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2936577?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c0db4e40b4724ebda766ba41ffbbee22

المؤلفون: Katrine M. Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Guido Rubboli

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: SLC6A1, neurodevelopmental disorders, epilepsy, epilepsy genetics, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1216653/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/9b772a0cf1ac4bf7a6f55e11c80726d3

المؤلفون: Kassabian, Benedetta, Fenger, Christina Duhring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt, Anja, Vidal, Anna Abuli, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Moller, Rikke S., Johannesen, Katrine M., Rubboli, Guido

المساهمون: HUS Children and Adolescents, Children's Hospital, Lastenneurologian yksikkö

مصطلحات موضوعية: Epilepsy, Intellectual disability, Intrafamilial variability, Neurodevelopmental disorders, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10138/563949; 85165951571; 001034872700001

الاتاحة: http://hdl.handle.net/10138/563949

المؤلفون: Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido

المصدر: Kassabian , B , Fenger , C D , Willems , M , Aledo-Serrano , A , Linnankivi , T , McDonnell , P P , Lusk , L , Jepsen , B S , Bayat , M , Kattentidt-Mouravieva , A A , Vidal , A A , Valero-Lopez , G , Alarcon-Martinez , H , Goodspeed , K , van Slegtenhorst , M , Barakat , T S , Møller , R S , Johannesen , K M & Rubboli , G 2023 , ' Corrigendum : Intrafamilial variability in SLC6A1-related neurodevelopmental disorders (Frontiers in Neuroscience, (2023), ....

مصطلحات موضوعية: epilepsy, intellectual disability, intrafamilial variability, neurodevelopmental disorders, SLC6A1

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/b10e839e-864d-4493-abf9-87ff5080af2b

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/b10e839e-864d-4493-abf9-87ff5080af2b
https://doi.org/10.3389/fnins.2023.1270299
https://findresearcher.sdu.dk/ws/files/239277814/Open_Access_Version.pdf

المؤلفون: Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Charles Heath, Marta Gut, Ivo Glynne Gut

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-022-33530-3; https://doaj.org/toc/2041-1723; https://doaj.org/article/5509dd67c124407290bff7e8473a500c

الاتاحة: https://doi.org/10.1038/s41467-022-33530-3
https://doaj.org/article/5509dd67c124407290bff7e8473a500c

المؤلفون: Johannesen, Katrine M., Nielsen, Jimmi, Sabers, Anne, Isidor, Bertrand, Kattentidt-Mouravieva, Anja A., Zieglgänsberger, Dominik, Heidlebaugh, Alexis R., Oetjens, Kathryn F., Vidal, Anna Abuli, Christensen, Jakob, Tiller, Jacob, Freed, Amber N., Møller, Rikke S., Rubboli, Guido

المصدر: Johannesen , K M , Nielsen , J , Sabers , A , Isidor , B , Kattentidt-Mouravieva , A A , Zieglgänsberger , D , Heidlebaugh , A R , Oetjens , K F , Vidal , A A , Christensen , J , Tiller , J , Freed , A N , Møller , R S & Rubboli , G 2023 , ' The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders ' , Frontiers in Neuroscience , vol. 17 , 1216653 .

مصطلحات الفهرس: epilepsy, epilepsy genetics, intellectual disability, neurodevelopmental disorders, SLC6A1, article

URL: https://curis.ku.dk/portal/da/publications/the-phenotypic-presentation-of-adult-individuals-with-slc6a1related-neurodevelopmental-disorders(02258167-a943-4899-9932-b2971ebf60c9).html
https://doi.org/10.3389/fnins.2023.1216653
https://curis.ku.dk/ws/files/388330440/fnins_17_1216653.pdf

المؤلفون: Carlota Rodó, Silvia Arévalo, Alberto Plaja, Maddalena Santirocco, Anna Abuli, Neus Castells, Elena Carreras, Nerea Maiz, Eduardo F. Tizzano, Irene Valenzuela

المصدر: Prenatal Diagnosis. 41:123-135

مصطلحات موضوعية: Adult, Central Nervous System, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Central nervous system, 030105 genetics & heredity, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Cerebellar hypoplasia, Genetics (clinical), Retrospective Studies, Comparative Genomic Hybridization, Fetus, 030219 obstetrics & reproductive medicine, Spina bifida, Microarray analysis techniques, business.industry, Obstetrics and Gynecology, medicine.disease, medicine.anatomical_structure, Female, business, Cohort study, Ventriculomegaly, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b6ba267b433b2c40687c6e8adb3505
https://doi.org/10.1002/pd.5829

المؤلفون: Laura Trujillano, Irene Valenzuela, Mar Costa‐Roger, Ivon Cuscó, Paula Fernandez‐Alvarez, Anna Cueto‐González, Amaia Lasa‐Aranzasti, Bárbara Masotto, Anna Abulí, Marta Codina‐Solà, Miguel del Campo, Juan Antonio Ruiz Moreno, Cristina Pardo Domínguez, Carmen Palma Milla, Rubén Pérez de la Fuente, Juan Francisco Quesada‐Espinosa, Noemí Núñez‐Enamorado, Blanca Gener, María Juliana Ballesta‐Martínez, Alejandro J. Brea‐Fernández, Montse Fernández‐Prieto, Juan Pablo Trujillo‐Quintero, Anna Ruiz, Fernando Santos‐Simarro, Mónica Rosello, Carmen Orellana, Francisco Martinez, Antonio F. Martinez‐Monseny, Dídac Casas‐Alba, Mercedes Serrano, María Palomares‐Bralo, Emi Rikeros‐Orozco, María Ángeles Gómez‐Cano, Pilar Tirado‐Requero, Juan Pié Juste, Feliciano J. Ramos, Elena García‐Arumí, Eduardo F. Tizzano

الاتاحة: https://doi.org/10.1111/cge.14701/v2/response1

المؤلفون: Maite Calucho, Pia Gallano, Eduardo F. Tizzano, Laura Alias, Pablo Fuentes-Prior, Clara Serra-Juhé, Anna Abuli, Francesca March, Elisabeth Martínez, Sara Bernal

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Population, Genetic Carrier Screening, Genetic Counseling, SMN1, 030105 genetics & heredity, Biology, Brief Communication, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Age of Onset, Allele, education, Gene, Genetics (clinical), Sequence Deletion, education.field_of_study, Spinal muscular atrophy, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Pedigree, nervous system diseases, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e862fea48c3fedd82fd63c9e1e7c26
https://doi.org/10.1038/s41431-018-0193-4

المؤلفون: Ceres Fernández-Rozadilla, Rosa Tarrío, Juan Clofent, Luisa De Castro, Alejandro Brea-Fernández, Xavier Bessa, Anna Abulí, Montserrat Andreu, Rodrigo Jover, Rosa Xicola, Xavier Llor, Antoni Castells, Sergi Castellví-Bel, Angel Carracedo, Clara Ruiz-Ponte

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://cebp.aacrjournals.org/content/cebp/19/2/619.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1035.7424; http://cebp.aacrjournals.org/content/cebp/19/2/619.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1035.7424
http://cebp.aacrjournals.org/content/cebp/19/2/619.full.pdf

المؤلفون: Anna Abuli, Ceres Fernandez-Rozadilla, Virginia Alonso-Espinaco, Jenifer Munoz, Victoria Gonzalo, Xavier Bessa, Dolors Gonzalez, Joan Clofent, Joaquin Cubiella, Juan D Morillas, Joaquim Rigau, Mercedes Latorre, Fernando Fernandez-Banares, Elena Pena, Sabino Riestra, Artemio Paya, Rodrigo Jover, Xavier Llor, Luis Carvajal-Carmona, Victor Moreno, Angel Carracedo, Antoni Castells, Montserrat Andreu, Mandreu@parcdesalutmar, Clara Ruiz-Ponte, Sergi Castellvi-Bel, Anna Abulí, Ceres Fernández-Rozadilla, Jenifer Muñoz, Dolors González, Fernando Fernández-Bañares, Elena Peña, Artemio Payá, Rosa M Xicola, Cristina M Villanueva, Josep M Piqué, Sergi Castellví-Bel, Gastroenterological Association

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://public-files.prbb.org/publicacions/233123e0-a8b4-012e-2554-263316c03650.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.1098; http://public-files.prbb.org/publicacions/233123e0-a8b4-012e-2554-263316c03650.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.1098
http://public-files.prbb.org/publicacions/233123e0-a8b4-012e-2554-263316c03650.pdf

المؤلفون: Clara Esteban-Jurado, Anna Abulí, Jenifer Muñoz, Franc-Esc Balaguer, Teresa Ocaña, Antoni Castells, Josep M Piqué, Sergi Castellví-Bel, Xavier Bessa, Montserrat Andreu, Maria Vila, Bioinformatics Juan José Lozano, Anna Pristoupilova, Sergi Beltrán, Angel Carracedo, Clara Ruiz-Ponte, PhD Sergi Castellví-Bel, Pilar Garre, Juan José Lozano, Francesc Balaguer, Luis Bujanda, Trinidad Caldés

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://public-files.prbb.org/publicacions/c4cc4f60-8690-0131-59cf-525400e56e78.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1036.8310; http://public-files.prbb.org/publicacions/c4cc4f60-8690-0131-59cf-525400e56e78.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1036.8310
http://public-files.prbb.org/publicacions/c4cc4f60-8690-0131-59cf-525400e56e78.pdf

المؤلفون: Ceres Fernández-rozadilla, Luisa De Castro, Juan Clofent, Ro Brea-fernández, Xavier Bessa, Anna Abulí, Montserrat Andreu, Rodrigo Jover, Rosa Xicola, Xavier Llor, Antoni Castells, Angel Carracedo, Clara Ruiz-ponte

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/5a/26/PLoS_One_2010_Sep_9_5(9)_e12673.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.350.8595

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.350.8595