يعرض 1 - 6 نتائج من 6 نتيجة بحث عن '"Pauta, Montse"', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

    المؤلفون: Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie, Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark, Wapner, Ronald, Chitty, Lyn, Mone, Fionnuala, Blayney, Gillian, Laffan, Eoghan, Jacob, Preethi, Baptiste, Caitlin, Gabriel, Heinz, Sparks, Teresa, Yaron, Yuval, Norton, Mary

    المصدر: Prenatal Diagnosis. 44(4)

    مصطلحات موضوعية: Pregnancy, Female, Humans, Prospective Studies, Hydrocephalus, Nervous System Malformations, Karyotyping, Karyotype, Fetus, Prenatal Diagnosis, Ultrasonography, Prenatal

    وصف الملف: application/pdf

    الوصول الحر: https://escholarship.org/uc/item/0bb452s7Test

    View record in eScholarship

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  2. 2
    دورية أكاديمية
    Monogenic conditions and central nervous system anomalies: a prospective study, systematic review and meta-analysis

    المؤلفون: Blayney, Gillian, Laffan, Eoghan, Jacob, Preethi, Baptiste, Caitlin, Gabriel, Heinz, Sparks, Teresa, Yaron, Yuval, Norton, Mary, Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie, Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark, Wapner, Ronald, Chitty, Lyn, Mone, Fionnuala

    المصدر: Blayney , G , Laffan , E , Jacob , P , Baptiste , C , Gabriel , H , Sparks , T , Yaron , Y , Norton , M , Diderich , K , Wang , Y , Chong , K , Chitayat , D , Saini , N , Aggarwal , S , Pauta , M , Borrell , A , Gilmore , K , Chandler , N , Allen , S , Vora , N , Noor , A , Monaghan , C , Kilby , M , Wapner , R , Chitty , L ....

    مصطلحات موضوعية: central nervous system, incremental yield, fetal brain, next generation sequencing, exome sequencing, fetus

    وصف الملف: application/pdf

    العلاقة: https://pure.qub.ac.uk/en/publications/138c27b2-4b6d-47f1-b7bb-99a15f260c3cTest

    الإتاحة: https://doi.org/10.1002/pd.6466Test
    https://pure.qub.ac.uk/en/publications/138c27b2-4b6d-47f1-b7bb-99a15f260c3cTest
    https://pureadmin.qub.ac.uk/ws/files/543691446/Prenatal_Diagnosis_2023_Blayney_Monogenic_conditions_and_central_nervous_system_anomalies_A_prospective_study_.pdfTest

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  3. 3
    دورية أكاديمية
    Lethal congenital contracture syndrome 11: A case report and literature review

    المؤلفون: Potrony Mateu, Míriam, Borrell, Antoni, Masoller Casas, Narcís, Nadal Serra, Alfons, Rodriguez-Carunchio, Leonardo, Saez de Gordoa Elizalde, Karmele, Quesada Espinosa, Juan Francisco, Villanueva Cañas, Jose Luis, Pauta, Montse, Jodar Bifet, Meritxell, Madrigal Bajo, Irene, Badenas Orquin, Celia, Álvarez Mora, María Isabel, Rodríguez Revenga, Laia

    المصدر: Articles publicats en revistes (Fonaments Clínics)

    مصطلحات موضوعية: Fetus, Malformacions del fetus, Anomalies cromosòmiques, Expressió gènica, Atròfia muscular, Foetus malformations, Chromosome abnormalities, Gene expression, Muscular atrophy

    وصف الملف: 12 p.; application/pdf

    العلاقة: Reproducció del document publicat a: https://doi.org/10.3390/jcm11133570Test; Journal of Clinical Medicine, 2022, vol. 11, num. 13, p. 3570; https://doi.org/10.3390/jcm11133570Test; http://hdl.handle.net/2445/191265Test; 726335

    الإتاحة: https://doi.org/10.3390/jcm11133570Test
    http://hdl.handle.net/2445/191265Test

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  4. 4
    دورية أكاديمية
    Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.

    المؤلفون: Pauta, Montse1 (AUTHOR), Campos, Berta2 (AUTHOR), Segura-Puimedon, Maria2 (AUTHOR), Arca, Gemma3 (AUTHOR), Nadal, Alfons4 (AUTHOR), Tubau, Albert5 (AUTHOR), Perez, Silvia Pina6 (AUTHOR), Marimon, Edda7 (AUTHOR), Martín, Lourdes8 (AUTHOR), López-Quesada, Eva9 (AUTHOR), Sabrià, Joan7 (AUTHOR), Muñoz, Begoña10 (AUTHOR), Garcia, Esperanza11 (AUTHOR), Paz Y. Miño, Fernanda12 (AUTHOR), Borobio, Virginia12 (AUTHOR), Gomez, Olga12 (AUTHOR), Eixarch, Elisenda12,13 (AUTHOR), Lopez, Monica8 (AUTHOR), Comas Rovira, Montserrat6 (AUTHOR), Borrell, Antoni1,12 (AUTHOR)

    المصدر: Fetal Diagnosis & Therapy. 2021, Vol. 48 Issue 10, p746-756. 11p.

    مصطلحات موضوعية: *NUCLEOTIDE sequencing, *HEREDITY, *HYDROPS fetalis, *FETAL abnormalities, *FETUS, *GENES


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  5. 5
    دورية أكاديمية
    Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

    المؤلفون: Larroya, Marta, Tortajada, Marta, Mensión, Eduard, Pauta, Montse, Rodriguez-Revenga, Laia, Borrell, Antoni

    المصدر: PLoS ONE; 7/9/2021, Vol. 15 Issue 7, p1-10, 10p

    مصطلحات موضوعية: FETAL ultrasonic imaging, DNA copy number variations, MATERNAL age, FETAL abnormalities, FETUS, REPRODUCTIVE technology

    النص الكامل

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  6. 6
    دورية أكاديمية
    Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

    المؤلفون: Pauta, Montse1 (AUTHOR) mpauta@clinic.cat, Martinez-Portilla, Raigam Jafet1,2 (AUTHOR) raifet@hotmail.com, Borrell, Antoni1,3,4 (AUTHOR) ABORRELL@clinic.cat

    المصدر: Journal of Clinical Medicine. Oct2021, Vol. 10 Issue 20, p4739. 1p.

    مصطلحات موضوعية: *FETAL abnormalities, *HEREDITY, *HOMOZYGOSITY, *FETUS, *PRENATAL diagnosis

    النص الكامل

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