Hasil Pencarian - Ana Maria Fortuna

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  1. 1
    Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions

    Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC... oleh Jorge Diogo Da Silva, Ana Rita Soares, Ana Maria Fortuna, Nataliya Tkachenko

    Diterbitkan 2023-01-01
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  2. 2
    Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

    Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases oleh Ana Rita Soares, Gabriela Soares, Manuela Mota-Freitas, Natália Oliva-Teles, Ana Maria Fortuna

    Diterbitkan 2019-08-01
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  3. 3
    A Novel Frameshift <i>CHD4</i> Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

    A Novel Frameshift <i>CHD4</i> Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1) oleh Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David

    Diterbitkan 2022-12-01
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  4. 4
    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication oleh Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, Nataliya Tkachenko

    Diterbitkan 2022-11-01
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  5. 5
    Exhaled nitric oxide fraction as an add-on to ACQ-7 for not well controlled asthma detection.

    Exhaled nitric oxide fraction as an add-on to ACQ-7 for not well controlled asthma detection. oleh Vicente Plaza, David Ramos-Barbón, Ana María Muñoz, Ana María Fortuna, Astrid Crespo, Cristina Murio, Rosa Palomino, EOLO Study Investigators

    Diterbitkan 2013-01-01
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  6. 6
    Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

    Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication oleh Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares

    Diterbitkan 2024-09-01
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  7. 7
    Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

    Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB oleh Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge

    Diterbitkan 2020-12-01
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  8. 8
    A new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study

    A new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study oleh Patricia Peñacoba, Maria Antònia Llauger, Ana María Fortuna, Xavier Flor, Gabriel Sampol, Anna Maria Pedro-Pijoan, Núria Grau, Carme Santiveri, Joan Juvanteny, José Ignacio Aoiz, Joan Bayó, Patricia Lloberes, Mercè Mayos, the PASHOS Working Group

    Diterbitkan 2022-01-01
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  9. 9
    Genomic imbalances defining novel intellectual disability associated loci

    Genomic imbalances defining novel intellectual disability associated loci oleh Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel

    Diterbitkan 2019-07-01
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