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1دورية أكاديمية
المؤلفون: Francisco Gonçalves, Pedro Lisboa-Gonçalves, Rita Quental, Susana Fernandes, Sofia Quental, Laurence Michel-Calemard, Claire Goursaud, Sofia Marques, Joana Santos, Isabel Tavares, João Paulo Oliveira
المصدر: Nefrología, Vol 44, Iss 4, Pp 576-581 (2024)
مصطلحات موضوعية: Enfermedad renal tubulointersticial autosómica dominante, Nefropatía hiperuricémica juvenil familiar, Enfermedad renal crónica, Hiperuricemia, Uromodulina, UMOD, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Filipa Ferreira, Clara Gonçalves Bacelar, Pedro Lisboa-Gonçalves, Núria Paulo, Rita Quental, Ana Teresa Nunes, Roberto Silva, Isabel Tavares
المصدر: Nefrología (English Edition), Vol 43, Iss , Pp 1-7 (2023)
مصطلحات موضوعية: Glomeruloesclerosis focal y segmentaria, mtDNA m.3243A>G, Síndrome MELAS, Enfermedades mitocondriales, Enfermedades renales, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Rodrigo Manuel Robalo Curado Vilares Morgado, Ana Margarida Ferreira, Renato Santos-Silva, Rita Quental, Angela Carneiro, Sérgio Estrela-Silva
المصدر: Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 519-527 (2023)
مصطلحات موضوعية: cohen syndrome, pigmentary retinopathy, vsp13b, rod-cone dystrophy, Ophthalmology, RE1-994
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Ivana Cardoso, Margarida Fernandes, Rita Quental, Marta Vila Real, Fátima Santos
المصدر: Residência Pediátrica, Vol 13, Iss 4 (2023)
مصطلحات موضوعية: whole exome sequencing, intellectual disability, genes, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Catarina Granjo Morais, Rita Quental, Lara Lourenço, Micaela Guardiano, Cármen Silva, Miguel Leão
المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-4 (2023)
مصطلحات موضوعية: Autism spectrum disorder, Autistic disorder, Epilepsy, Genetic testing, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-2441
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6
المؤلفون: Rita Quental, Mafalda Sampaio, Isabel Alonso, Sofia Quental, Miguel Leão, Raquel Sousa
المصدر: Neuropediatrics. 54:120-125
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8066710e65c4639cd047b4c84b32f5b1
https://doi.org/10.1055/s-0042-1760366 -
7
المؤلفون: Rita Quental, Daniel Gonçalves, Esmeralda Rodrigues, Edite Serrano Gonçalves, Jorge Oliveira, João Parente Freixo, Miguel Leão
المصدر: American Journal of Medical Genetics Part A. 188:1311-1316
مصطلحات موضوعية: Genetics, Genetics (clinical)
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8
المؤلفون: Ricardo Barreto Mota, Joana Figueirinha, Rita Quental, Jacinta Fonseca, Cláudia Melo, Mafalda Sampaio, Raquel Sousa
المصدر: Revista de Neurología. 76:243
مصطلحات موضوعية: Neurology (clinical), General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::14537b6f3e79e4338cc94fa5cf0ced76
https://doi.org/10.33588/rn.7607.2021447 -
9
المؤلفون: Rita Quental, Iva Brito, João Luís Barreira, Graça Barros Loureiro, Carla Pinto Moura, Rúben Dos-Reis-Maia, Mariana Rodrigues, Sara Ganhão, Francisca Aguiar, Diana Rita Oliveira
المصدر: Clinical Rheumatology. 39:3853-3860
مصطلحات موضوعية: medicine.medical_specialty, Adenosine Deaminase, Disease, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Agammaglobulinemia, Internal medicine, Humans, Medicine, 030212 general & internal medicine, Child, Genetic testing, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Polyarteritis nodosa, ADA2 DEFICIENCY, General Medicine, ADENOSINE DEAMINASE 2, medicine.disease, Phenotype, Dermatology, Polyarteritis Nodosa, Gene expression profiling, Intercellular Signaling Peptides and Proteins, Severe Combined Immunodeficiency, business
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10
المؤلفون: Lorena Stella, Joana Tenente, Rita Quental, Helena Santos, Miguel Leo
المصدر: International Journal of Medical Reviews and Case Reports. 6:1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f65db491992d3f7ba1d5b2be238c788e
https://doi.org/10.5455/ijmrcr.myt1lduplicationinaportuguesepatientwithintellectualdisabilityandobesity