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1دورية أكاديمية
المؤلفون: Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow
المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2056-7944Test
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2دورية أكاديمية
المؤلفون: Rocío Blanco, Yolanda Rico-Ramírez, Álvaro Hermida-Ameijeiras, Israa Mahmoud Sanad Abdullah, Kolja Lau, Jorge Alvarez-Rubio, Elena Fortuny, Amparo Martínez-Monzonís, Albina Nowak, Peter Nordbeck, Carlos Veras-Burgos, Jaume Pons-Llinares, Emiliano Rossi, Fiama Caimi-Martínez, Teresa Bosch-Rovira, Marta Alamar-Cervera, Virginia Ruiz-Pizarro, Laura Torres-Juan, Damian Heine-Suñer, Tomás Ripoll-Vera
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 8, p 4299 (2024)
مصطلحات موضوعية: Anderson–Fabry disease, AFD, α-galactosidase A deficiency, renal failure, lysosomal, hypertrophic cardiomyopathy, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/8/4299Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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3دورية أكاديمية
المؤلفون: Laura Torres-Juan, Yolanda Rico, Elena Fortuny, Jaume Pons, Rafael Ramos, Fernando Santos-Simarro, Víctor Asensio, Iciar Martinez, Damian Heine-Suñer
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 10, p 8644 (2023)
مصطلحات موضوعية: NOTCH1, MIB1, thoracic aortic aneurysm, deletion, tricuspid aortic valve, Notch pathway, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/24/10/8644Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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4دورية أكاديمية
المؤلفون: Paula Morlanes-Gracia, Guido Antoniutti, Jorge Alvarez-Rubio, Laura Torres-Juan, Damian Heine-Suñer, Tomás Ripoll-Vera
المصدر: Frontiers in Cardiovascular Medicine, Vol 8 (2021)
مصطلحات موضوعية: NKX2-5, genetic, congenital heart disease, sudden cardiac death, left ventricular non-compaction, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fcvm.2021.691203/fullTest; https://doaj.org/toc/2297-055XTest
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5دورية أكاديمية
المؤلفون: Mercedes Iglesias, Tomas Ripoll-Vera, Consuelo Perez-Luengo, Ana Belen García, Susana Moyano, Juan Carlos Canos, Juan Carlos Borondo, Jorge Alvarez, Damian Heine-Suñer, Bernardino Barcelo
المصدر: Journal of Clinical Medicine, Vol 10, Iss 9, p 1806 (2021)
مصطلحات موضوعية: sudden death, autopsy, genetic testing, Medicine
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Fiama Caimi-Martinez, Guido Antoniutti, Rocio Blanco, Bernardo García de la Villa, Nelson Alvarenga, Nancy Govea-Callizo, Laura Torres-Juan, Damián Heine-Suñer, Jordi Rosell-Andreo, David Crémer Luengos, Jorge Alvarez-Rubio, Tomás Ripoll-Vera
المصدر: Genes; Volume 13; Issue 5; Pages: 782
مصطلحات موضوعية: cardiomyopathies, CVD genetics, NGS for diagnostics of CVDs-
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13050782Test
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7دورية أكاديمية
المؤلفون: Guido Antoniutti, Fiama Giuliana Caimi-Martinez, Jorge Álvarez-Rubio, Paula Morlanes-Gracia, Jaume Pons-Llinares, Blanca Rodríguez-Picón, Elena Fortuny-Frau, Laura Torres-Juan, Damian Heine-Suner, Tomas Ripoll-Vera
المصدر: Genes; Volume 13; Issue 2; Pages: 320
مصطلحات موضوعية: hypertrophic cardiomyopathy, cardiomyopathies, cardiomyopathy, genetic, genetic testing, next-generation sequencing, NGS for diagnostics of CVDs, variant interpretation, variant classification
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13020320Test
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8
المؤلفون: Damian Heine-Suñer, Juan Carlos Canos, Consuelo Perez-Luengo, Bernardino Barcelo, Juan Carlos Borondo, Susana Moyano, Mercedes Iglesias, Ana Belen García, Jorge Alvarez, Tomás Ripoll-Vera
المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 1806, p 1806 (2021)
Volume 10
Issue 9مصطلحات موضوعية: medicine.medical_specialty, sudden death, Autopsy, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, Gastroenterology, Sudden death, Article, Sudden cardiac death, genetic testing, 03 medical and health sciences, 0302 clinical medicine, autopsy, Internal medicine, medicine, Family history, Uncertain significance, Likely pathogenic, Genetic testing, 0303 health sciences, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, General Medicine, medicine.disease, Medicine, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5f37e26d8e7961300db80e48c9254ecTest
http://europepmc.org/articles/PMC8122344Test -
9
المؤلفون: Maude Schneider, Doron Gothelf, Marianne Bernadette van den Bree, Carrie E. Bearden, Donna M. McDonald-McGinn, Marco Armando, Raquel E. Gur, Jordi Rosell, Joris Vermeesch, Ann Swillen, Therese van Amelsvoort, Jacob A. S. Vorstman, Robert J. Shprintzen, Tao Wang, Clodagh M. Murphy, Kieran C. Murphy, Tingwei Guo, Terrence B. Crowley, Jasna Raventos, Nicole Philip, Sasja N. Duijff, Elaine H. Zackai, Maria Pontillo, Jeroen Breckpot, Stephan Eliez, Alexander Diacou, Beverly S. Emanuel, Stefano Vicari, Michael John Owen, Maria Niarchou, Claudia Ornstein, Jaume Morey‐Cañellas, Anne S. Bassett, Yingjie Zhao, Ania Fiksinski, Rens Evers, Elemi J. Breetvelt, Antonino Buzzanca, Sixto García-Miñaur, Bernice E. Morrow, Eva W.C. Chow, Wendy R. Kates, Linda E. Campbell, Damian Heine-Suñer
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9)
المصدر: American Journal of Medical Genetics. A, Vol. 176, No 10 (2018) pp. 2172-2181
American Journal of Medical Genetics Part A, 176(10), 2172-2181. Wiley
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American journal of medical genetics. Part A, vol 176, iss 10مصطلحات موضوعية: 0301 basic medicine, Male, Chromosomes, Human, Pair 22, Intellectual disability, DEVELOPMENTAL TRAJECTORIES, INTELLIGENCE, ddc:616.89, 0302 clinical medicine, Cognitive decline, BRAIN, Child, Genetics (clinical), Intelligence Tests, Pediatric, education.field_of_study, Intelligence quotient, CARDIO-FACIAL-SYNDROME, Low copy repeats, CONGENITAL HEART-DISEASE, low copy repeat, VELOCARDIOFACIAL SYNDROME, intellectual disability, Cohort, Female, SCHOOL-AGED CHILDREN, Chromosome Deletion, Haploinsufficiency, Deletion size, deletion size, Human, Adult, medicine.medical_specialty, Adolescent, Population, Clinical Sciences, Segmental duplication, Low copy repeat, segmental duplication, Biology, Article, Chromosomes, 03 medical and health sciences, NEURODEVELOPMENTAL OUTCOMES, Clinical Research, Internal medicine, medicine, DiGeorge Syndrome, Genetics, Acquired Cognitive Impairment, Humans, education, International 22q11.2 Brain and Behavior Consortium, medicine.disease, Brain Disorders, Institutional repository, 030104 developmental biology, Endocrinology, IQ, 22q11.2 deletion syndrome, COGNITIVE DECLINE, Pair 22, FOLLOW-UP, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08da23afa70859c4fc6d6aa3b110d39Test
https://doi.org/10.1002/ajmg.a.40359Test -
10
المؤلفون: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Antonarakis, Stylianos
المصدر: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1مصطلحات موضوعية: Male, Heart disease, PREDICTION, Chromosomes, Human, Pair 22, Haploinsufficiency, Cardiovascular, Medical and Health Sciences, Genetic modifier, Proto-Oncogene Mas, Linkage Disequilibrium, Cohort Studies, Congenital, ddc:616.89, Segmental Duplications, Genomic, DiGeorge syndrome, 2.1 Biological and endogenous factors, Chromosome 22q11.2 deletion syndrome, Copy-number variation, Aetiology, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, Genetics, cardio-facial syndrome, II DEFICIENCY, 0303 health sciences, variants, MOLECULAR DEFINITION, 030305 genetics & heredity, TBX1, Single Nucleotide, Biological Sciences, Segmental Duplications, Complex trait, Heart Disease, Phenotype, Female, tbx1 haploinsufficiency, Chromosome Deletion, Human, Heart Defects, Congenital, prevalence, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Complete sequence, Clinical Research, LOW-COPY REPEATS, medicine, Humans, Polymorphism, Allele, Conotruncal heart defects, International 22q11.2 Brain and Behavior Consortium, 030304 developmental biology, Sequence (medicine), Congenital heart disease, Copy number variation, Human Genome, association, CRKL, medicine.disease, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Case-Control Studies, Genome-Wide Association Study, Genomic, Genetic association, Pair 22
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest