المؤلفون: Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, Quitéria Rato, Ana Catarina Gomes, Ana Cristina Ferreira, Ana Gaspar, Ana Margarida Marques, Ana Maria Garabal, Ana Paula Bogalho, Ana Rita Pereira, Anabela Raimundo, André Travessa, Andreia Lopes, António Afonso, António Furtado, António Guerra, António Monteiro, António Trindade, Armindo Ribeiro, Bernardo Dias Pereira, Bernardo Marques, Carla Laranjeira, Catarina Senra Moniz, Cecília Frutuoso, Cláudia Falcão Reis, Cláudia Rodrigues, Clementina Fernandes, Conceição Ferreira, Daniel Ferreira, Diogo Torres, Elisabete Martins, Elsa Gaspar, Fabiana Pimentel, Fernando Simões, Francisco Araújo, Francisco Silva, Goreti Lobarinhas, Graça Morais, Guida Gama, Guilherme Lourenço, Helena Mansilha, Helena Pereira, Heloísa Santos, Henedina Antunes, Inês Batista Gomes, Inês Colaço, Isabel Azevedo, Isabel Palma, João Anselmo, João Porto, João Ramos, João Sequeira Duarte, Jorge Pintado Alves, José Miguel Salgado, José Pereira de Moura, Leonor Sassetti, Lina Cardoso Ramos, Luísa Diogo Matos, Luísa Mota Vieira, Luísa Pires, Márcio de Moura, Margarida Bruges, Margarida Venâncio, Maria do Rosário Barroso, Maria João Virtuoso, Maria Luísa Gonçalves, Mário Martins Oliveira, Mendes Nunes, Miguel Costa, Miguel Mendes, Miguel Toscano Rico, Mónica Tavares, Natalina Miguel, Oana Moldovan, Olga Azevedo, Patrícia Lipari Pinto, Patrícia Pais, Patrícia Vasconcelos, Paula Garcia, Paula Martins, Pedro Marques da Silva, Piedade Lemos, Raquel Coelho, Raquel Gouveia da Silva, Raquel Ribeiro, Rita Jotta de Oliveira, Roberto Pinto, Sandra Pereira, Sérgio Ferreira Cristina, Sílvia Sequeira, Susana Correia, Tânia Vassalo, Tiago Pack, Vânia Martins, Vera Frazão Vieira

المصدر: Journal of Lipid Research, Vol 65, Iss 2, Pp 100490- (2024)

مصطلحات موضوعية: familial hypercholesterolemia, FH-phenocopy genes, polygenic hypercholesterolemia, hyper-Lp(a), Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227523001633; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/68a8ff206df9455cbff0bf939698e1bb

المؤلفون: Mafalda Cascais, Ester Pereira, Alexandra Vieira, Margarida Venâncio, Lina Ramos, Pascoal Moleiro

المصدر: Annals of Pediatric Endocrinology & Metabolism, Vol 24, Iss 4, Pp 262-266 (2019)

مصطلحات موضوعية: maturity onset diabetes of the young, pediatric, glucokinase, hyperglycemia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://e-apem.org/upload/pdf/apem-2019-24-4-262.pdf; https://doaj.org/toc/2287-1012; https://doaj.org/toc/2287-1292

URL الوصول: https://doaj.org/article/b74e96fa20be46d584ab18637d893ce1

المؤلفون: Miguel Pinto de Gouveia, Inês Coutinho, Vera Teixeira, Renata d'Oliveira, Margarida Venâncio, Ana Moreno

المصدر: Anais Brasileiros de Dermatologia, Vol 91, Iss 6, Pp 837-839 (2016)

مصطلحات موضوعية: Hyperpigmentation, Hypopigmentation, Mosaicism, Trisomy, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.scielo.br/pdf/abd/v91n6/0365-0596-abd-91-06-0837.pdf; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000600837&tlng=en; https://doaj.org/toc/0365-0596

URL الوصول: https://doaj.org/article/ab670cb22cf44124ad9dee946b2662e9

المؤلفون: Francisca Caetano, Ana Botelho, Joana Trigo, Joana Silva, Inês Almeida, Margarida Venâncio, João Pais, Conceição Sanches, António Leitão Marques

المصدر: Revista Portuguesa de Cardiologia, Vol 33, Iss 5, Pp 261-267 (2014)

مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S087025511300348X; https://doaj.org/toc/0870-2551

URL الوصول: https://doaj.org/article/e4389457a70d4abf9b9bc90e5c1cd7a1

المؤلفون: Fabiana Ramos, Maria Margarida Venâncio, Carla Fernandes, Alexandra Paúl

المصدر: American Journal of Medical Genetics Part A. 185:2502-2506

مصطلحات موضوعية: Mutation, Pediatrics, medicine.medical_specialty, business.industry, Simpson–Golabi–Behmel syndrome, medicine.disease_cause, medicine.disease, Female patient, Genetics, Medicine, Lack of knowledge, Postnatal overgrowth, Skeletal abnormalities, Presentation (obstetrics), Family history, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c2fc751b2164e4c221c21097c2df11f6
https://doi.org/10.1002/ajmg.a.62263

المؤلفون: Lina Ramos, Margarida Venâncio, Mafalda Cascais, Pascoal Moleiro, Ester Preciosa Maio Nunes Pereira, Alexandra Vieira

المصدر: Annals of Pediatric Endocrinology & Metabolism, Vol 24, Iss 4, Pp 262-266 (2019)
Annals of Pediatric Endocrinology & Metabolism

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Genetic counseling, Case Report, 030209 endocrinology & metabolism, Asymptomatic, Maturity onset diabetes of the young, 03 medical and health sciences, maturity onset diabetes of the young, 0302 clinical medicine, 030225 pediatrics, Diabetes mellitus, medicine, Missense mutation, Family history, glucokinase, business.industry, Glucokinase, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, pediatric, Pediatrics, Perinatology and Child Health, hyperglycemia, medicine.symptom, business, Aunt

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677772d78e3705240b96c74168bfab03
http://e-apem.org/upload/pdf/apem-2019-24-4-262.pdf

المؤلفون: Rachel Hart, Fabiana Ramos, Helen Kingston, Rachel Scholey, Ana Beleza-Meireles, Jorge M. Saraiva, Luís Pires, Jill Clayton-Smith, Dian Donnai, Isabel M. Carreira, Ronnie Wright, Bronwyn Kerr, William G. Newman, Tracy A Briggs, Renata Nunes Oliveira, Kay Metcalfe, Jill E. Urquhart, Joaquim Sá, Lina Ramos, Cláudia F. Reis, May Tassabehji, Elizabete Cunha, Margarida Venâncio

المصدر: European Journal of Medical Genetics. 58:455-465

مصطلحات موضوعية: Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Hearing loss, Developmental Disabilities, Goldenhar syndrome, Branchial arch, Goldenhar Syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Family history, Craniofacial, Genetics (clinical), Hernia, Diaphragmatic, Comparative Genomic Hybridization, business.industry, Brain, Ear, General Medicine, Anatomy, medicine.disease, Spine, Hemifacial microsomia, Developmental disorder, Etiology, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e792b2c76c1ef2c62ea3600703945cc7
https://doi.org/10.1016/j.ejmg.2015.07.003

المؤلفون: Sandra Mesquita, Isabel M. Carreira, Jorge M. Saraiva, Joana B. Melo, Margarida Venâncio, Renata Nunes Oliveira, Cristina Pereira

المصدر: American Journal of Medical Genetics Part A. 167:1877-1883

مصطلحات موضوعية: Male, Chromosomes, Human, Pair 12, Prominent forehead, Anatomy, Short palpebral fissure, Biology, medicine.disease, Child, Preschool, Failure to thrive, Chromosomal region, Genetics, medicine, Humans, Female, Chromosome Deletion, medicine.symptom, Genetics (clinical), Chromosome 12, Comparative genomic hybridization, Low-set ears, Ventriculomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::596139878934ac5fb5b8fab006d38d04
https://doi.org/10.1002/ajmg.a.37077

المؤلفون: Mads Thomassen, Wilson Marques, Margarida Venâncio, Christina Halgren, Niels Tommerup, Joana B. Melo, Isabel M. Carreira, Niels A. Jensen, Mads Bak, Charles Marques Lourenço, Karen Friis Henriksen, Jakob V Nielsen, Allan Lind-Thomsen, Susana Isabel Ferreira, Malene B. Rasmussen, Claus Hansen, C.V.L. Geraldi, Guilherme Riccioppo Rodrigues

المصدر: Rasmussen, M B, Nielsen, J V, Lourenço, C M, Melo, J B, Halgren, C, Geraldi, C V L, Marques, W, Rodrigues, G R, Thomassen, M, Bak, M, Hansen, C, Ferreira, S I, Venâncio, M, Henriksen, K F, Lind-Thomsen, A, Carreira, I M, Jensen, N A & Tommerup, N 2014, ' Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes ', Journal of Medical Genetics, vol. 51, no. 9, pp. 605-613 . https://doi.org/10.1136/jmedgenet-2014-102535

مصطلحات موضوعية: Chromatin Immunoprecipitation, medicine.medical_specialty, Candidate gene, Developmental Disabilities, Gene Dosage, Nerve Tissue Proteins, Biology, Statistics, Nonparametric, GAD1, Molecular genetics, Genetics, medicine, Humans, Gene, Genetics (clinical), Comparative Genomic Hybridization, Sequence Analysis, DNA, Microdeletion syndrome, medicine.disease, Autism, Chromosomes, Human, Pair 3, Chromosome Deletion, Transcription Factor Gene, Transcription Factors, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b3945685230d89b8302918b4f9377fe
https://doi.org/10.1136/jmedgenet-2014-102535

المؤلفون: Joana Trigo, Inês Almeida, Francisca Caetano, João Pais, António Leitão Marques, Margarida Venâncio, Ana Botelho, C. Sanches, Joana Silva

المصدر: Revista Portuguesa de Cardiologia (English Edition), Vol 33, Iss 5, Pp 261-267 (2014)

مصطلحات موضوعية: Male, lcsh:Diseases of the circulatory (Cardiovascular) system, medicine.medical_specialty, Population, Diastole, Contrast Media, Gadolinium, Sudden death, Sudden cardiac death, Risk Factors, Internal medicine, medicine, Humans, cardiovascular diseases, Family history, education, Retrospective Studies, General Environmental Science, education.field_of_study, business.industry, Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Phenotype, Cardiac Imaging Techniques, Death, Sudden, Cardiac, lcsh:RC666-701, cardiovascular system, Cardiology, General Earth and Planetary Sciences, Female, Cardiac magnetic resonance, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de74e856726606c4c3a4874ba78495e
https://doi.org/10.1016/j.repce.2013.10.045