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1دورية أكاديمية
المؤلفون: Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
المصدر: Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
مصطلحات موضوعية: Comparative genomic hybridisation array, Microdeletion syndrome, Intellectual disability, Global developmental delay, Autism spectrum disorders, Congenital malformation, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1695403317303065Test; https://doaj.org/toc/1695-4033Test
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2دورية أكاديمية
المؤلفون: Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
المصدر: Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 3-11 (2018)
مصطلحات موضوعية: Array de hibridación genómica comparada, Síndrome de microdeleción, Discapacidad intelectual, Retraso global del desarrollo, Trastornos del espectro autista, Malformación congénita, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2341287918300875Test; https://doaj.org/toc/2341-2879Test
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3دورية أكاديمية
المؤلفون: Carolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, Rebeca Losada-Del Pozo, Beatriz Moreno, María Rodrigo-Moreno, Elena Martinez-Cayuelas, Rosa Riveiro-Alvarez, María Fenollar-Cortés, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
المصدر: Genes, Vol 12, Iss 9, p 1360 (2021)
مصطلحات موضوعية: AUTS2, AUTS2 syndrome, ADHD, neurodevelopmental disorder, autism, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
المصدر: Genes, Vol 12, Iss 5, p 738 (2021)
مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, intellectual disability, PACS1, rare disorders, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Genetics, QH426-470
وصف الملف: electronic resource
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5
المؤلفون: Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez‐Montanez, Javier Limeres, Fermina López‐Grondona, Ivon Cuscó, Eduardo F. Tizzano
المصدر: American Journal of Medical Genetics Part A. 188:991-995
مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, Cerebellar Diseases, Intellectual Disability, Vein of Galen Malformations, Vesicular Transport Proteins, Genetics, Humans, Epilepsy, Generalized, Aneurysm, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95efd802a77364cf240f47a58f6d4af7Test
https://doi.org/10.1002/ajmg.a.62596Test -
6
المؤلفون: María Antolín, Marta Codina-Solà, Teresa Vendrell, Paula Fernández-Álvarez, Ida Paramonov, Elena García-Arumí, Anna M. Cueto-González, Artur Evangelista, Irene Valenzuela, Eduardo F. Tizzano, Gisela Teixido-Tura, Fermina López-Grondona
المصدر: Journal of Medical Genetics. 59:605-612
مصطلحات موضوعية: Marfan syndrome, Genetics, medicine.diagnostic_test, Genetic counseling, Amplicon, Biology, medicine.disease, Deep sequencing, Germline, Somatic mosaicism, medicine, Gene, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::06c5233e8057a01e79a1447308644436Test
https://doi.org/10.1136/jmedgenet-2020-107604Test -
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المؤلفون: Mario Solís, Bardón Rivera Mb, Jair Tenorio, Salvador Climent, Pablo Lapunzina, Pablo Alarcón, Gisela Teixido-Tura, Fermina López Grondona, Victor L. Ruiz-Perez, Antonio Martinez Monseny, Juan C. Cigudosa, Mercedes Serrano, Eduardo F. Tizzano, Sara Alvarez, Irene Valenzuela, Gema Gordo, Sergio Ramos, Fernando Santos-Simarro, Fernández Jaén A, Julián Nevado, Palomares Bralo M, Sixto García-Miñaur, Irene Dapía, Jaime Campistol, Alicia Hernández, Pedro Arias, Javier Botet
المساهمون: Instituto de Salud Carlos III, European Commission
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Eur J Hum Genetمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Disease, Bioinformatics, Article, DNA Methyltransferase 3A, 03 medical and health sciences, Intellectual Disability, Genetics research, Intellectual disability, Genetics, medicine, Humans, DNA (Cytosine-5-)-Methyltransferases, Child, Growth Disorders, Genetics (clinical), Cerebral atrophy, 0303 health sciences, business.industry, Medical genetics, 030305 genetics & heredity, Macrocephaly, Syndrome, Middle Aged, medicine.disease, Phenotype, Psychotic Disorders, Schizophrenia, Overgrowth syndrome, Mutation, Female, Differential diagnosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8349a1315583359cc854dc15a3ba8aTest
https://doi.org/10.1038/s41431-019-0485-3Test -
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المؤلفون: Bruno Dallapiccola, Carlos Ruggiero, Fermina López-Grondona, Domenico Barbuti, Marcello Niceta, Giuseppe Zampino, Eduardo F. Tizzano, Christiane Zweier, Emilia Stellacci, Luitgard Graul-Neumann, Paula Fernández-Álvarez, Neerja Gupta, Marco Tartaglia, Andreas Tzschach, Gen Nishimura, Chiara Leoni, Andrea Del Fattore, Irene Valenzuela, Sabina Barresi
المصدر: Clinical Genetics. 97:362-369
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Hearing Loss, Sensorineural, Long bone, Mutation, Missense, bone defects, skeletal dysplasia, 030105 genetics & heredity, Cataract, AYME-GRIPP SYNDROME, Young Adult, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Growth Disorders, Genetics (clinical), Hip dysplasia, MAF, Aymé-Gripp syndrome, business.industry, Facies, Infant, medicine.disease, Dermatology, Musculoskeletal Abnormalities, 030104 developmental biology, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Proto-Oncogene Proteins c-maf, Congenital cataracts, Female, Sensorineural hearing loss, Skeletal abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6fc22cd7da3d1e14fef570eac08c00Test
https://doi.org/10.1111/cge.13651Test -
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المؤلفون: Marta Rodriguez de Alba, María Rodrigo-Moreno, Rosa Riveiro-Alvarez, Berta Almoguera, Carolina Sanchez-Jimeno, Carmen Ayuso, María Fenollar-Cortés, Fiona Blanco-Kelly, Beatriz Moreno, Elena Martinez-Cayuelas, Isabel Lorda-Sanchez, Fermina López-Grondona, Rebeca Losada-Del Pozo
المصدر: Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1360, p 1360 (2021)مصطلحات موضوعية: Male, Microcephaly, Pediatrics, medicine.medical_specialty, Autism Spectrum Disorder, AUTS2, AUTS2 syndrome, Developmental Disabilities, autism, QH426-470, Short stature, Article, Neurodevelopmental disorder, Loss of Function Mutation, Intellectual Disability, Intellectual disability, Genetics, medicine, ADHD, Humans, Global developmental delay, Child, Genetics (clinical), Genetic Association Studies, business.industry, Infant, Syndrome, medicine.disease, neurodevelopmental disorder, Cytoskeletal Proteins, Autism spectrum disorder, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Autism, Female, medicine.symptom, business, Haploinsufficiency, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359c4edcced05df6790ed37ed2127744Test
http://europepmc.org/articles/PMC8471078Test -
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المؤلفون: Beatriz Olivia Camarena Gómez, Angel Carracedo, Beatriz Morte, María Palomares-Bralo, Patricia Arias, Carmen Ayuso, Marta Pacio-Míguez, Fernando Santos-Simarro, Jair Tenorio-Castaño, Alma Kuechler, Pedro Arias, Feliciano J. Ramos, Eduardo F Tizzano, Sergio Ramos, Fermina López-Grondona, Luis A. Pérez-Jurado, María Pilar Méndez Perez, Julián Nevado, Berta Almoguera, Francisco Barros, Enrique Galán-Gómez, Sixto García-Miñaur, Alba Alcochea, Irene Valenzuela, Victor Martinez-Glez, Frank J. Kaiser, Ivon Cuscó, I. Lorda-Sánchez, Juan Pié, Pablo Lapunzina, Juan Carrión
المساهمون: UAM. Departamento de Medicina, Institut Català de la Salut, [Tenorio-Castaño J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. [Morte B] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. [Nevado J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Martinez-Glez V] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Santos-Simarro F] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [García-Miñaúr S] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Valenzuela I, Tizzano E] Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Cuscó I] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientiaمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, PACS1 Gene, Medicina, Medizin, Intellectual disability, Disease, 030105 genetics & heredity, Pathogenic variant c.607C > T, QH426-470, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Trastorns neuroconductuals - Aspectes genètics, Very frequent, 03 medical and health sciences, Neurodevelopmental disorder, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, Medicine, Craniofacial, education, rare disorders, PACS1, Genetics (clinical), education.field_of_study, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Deficiència mental - Aspectes genètics, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Congenital malformations, Schuurs-Hoeijmakers syndrome, medicine.disease, pathogenic variant c.607C > T, 030104 developmental biology, intellectual disability, Phosphofurin acidic cluster sorting protein 1, Schuurs–Hoeijmakers syndrome, Rare disorders, Phospho-furin acidic cluster sorting protein 1, business, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY], Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], Pathogenic variant c.607C > phosphofurin acidic cluster sorting protein 1
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6a6c2c7cd1876f586026d787166aTest
https://www.mdpi.com/2073-4425/12/5/738Test