يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"Ferreira, Carlos R."', وقت الاستعلام: 1.12s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Cornelia de Lange syndrome in diverse populations

    المؤلفون: Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D

    المصدر: American Journal of Medical Genetics Part A. 179(2)

    مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences

    وصف الملف: application/pdf

    الوصول الحر: https://escholarship.org/uc/item/6w35196fTest

    View record in eScholarship

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  2. 2
    دورية أكاديمية
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

    المؤلفون: Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A, Bongers, Ernie M H F, Schieving, Jolanda H, Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M P C D, Terhal, Paulien A, van Gassen, Koen L, Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R, Macnamara, Ellen, Braakman, Hilde M H, Brimble, Elise, Ruzhnikov, Maura R Z, Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B A, Gordon, Christopher T, Janssens, Veerle, Vissers, Lisenka E L M

    المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - SSS/IREC/SLUC - Pôle St.-Luc

    المصدر: American journal of human genetics, Vol. 104, no. 1, p. 139-156 (2019)

    مصطلحات موضوعية: Adolescent, Child, Preschool, DNA Mutational Analysis, Female, HEK293 Cells, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Protein Binding, Protein Phosphatase 2, Protein Subunits, Syndrome, PP2A, PP2A-related neurodevelopmental disorders, PPP2CA, de novo mutation, epilepsy

    العلاقة: boreal:222165; http://hdl.handle.net/2078.1/222165Test; info:pmid/30595372; urn:ISSN:0002-9297; urn:EISSN:1537-6605

    الإتاحة: https://doi.org/10.1016/j.ajhg.2018.12.002Test
    http://hdl.handle.net/2078.1/222165Test

    View record in BASE النص الكامل

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  3. 3
    دورية أكاديمية
    DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

    المؤلفون: Meissner, Laura E, Macnamara, Ellen F, D'Souza, Precilla, Yang, John, Vezina, Gilbert, Ferreira, Carlos R, Zein, Wadih M, Tifft, Cynthia J, Adams, David R

    المصدر: Radiology Faculty Publications

    مصطلحات موضوعية: Child, Preschool, Eye Abnormalities, Female, Humans, Intellectual Disability, Microcephaly, Mutation, Phenotype, Protein-Serine-Threonine Kinases, Protein-Tyrosine Kinases, Syndrome, Radiology

    العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_rad_facpubs/1110Test; http://dx.doi.org/10.1002/mgg3.1544Test

    الإتاحة: https://doi.org/10.1002/mgg3.1544Test
    https://hsrc.himmelfarb.gwu.edu/smhs_rad_facpubs/1110Test

    View record in BASE

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