يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"Rosanne Keep"', وقت الاستعلام: 0.93s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Organophosphate retinopathy

    المؤلفون: Hang Pham, Michelle D Lingao, Anuradha Ganesh, Jenina E Capasso, Rosanne Keep, Karthikeyan A Sadagopan, Alex V Levin

    المصدر: Oman Journal of Ophthalmology, Vol 9, Iss 1, Pp 49-51 (2016)

    مصطلحات موضوعية: Organophosphate, pesticide, retinopathy, Ophthalmology, RE1-994

    وصف الملف: electronic resource

    Relation: http://www.ojoonline.org/article.asp?issn=0974-620X;year=2016;volume=9;issue=1;spage=49;epage=51;aulast=Pham; https://doaj.org/toc/0974-620X

    URL الوصول: https://doaj.org/article/36308fee02d245f5a0d21de7d359aecc

    Find this article in full text from ProQuest Full Text Finder
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  2. 2
    Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing

    المؤلفون: Johannah Lebow, Sachiko Nakagawa, Stephen Apfelroth, Jie Zhan, Jodi D. Hoffman, Rosanne Keep, Andrew Spencer, Adele Schneider, David N. Finegold, Darnelle Dorsainville, Wei Sun, Sherman Minkoff, Joel Charrow, Susan J. Gross, Kirk Aleck, Nicole Schreiber-Agus

    المصدر: American Journal of Medical Genetics Part A. :2444-2447

    مصطلحات موضوعية: Blood Platelets, Heterozygote, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Population, History, 21st Century, Young Adult, Hexosaminidase A, Internal medicine, Genetics, Humans, Mass Screening, Medicine, Hexosaminidase, education, Genetics (clinical), Mass screening, Demography, Enzyme Assays, Genetic testing, education.field_of_study, Tay-Sachs Disease, medicine.diagnostic_test, business.industry, Tay-Sachs disease, medicine.disease, Ashkenazi jews, Jews, Mutation, business, Medical genetics of Jews

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::429f1be4af5f4c7e3ddb39c978f183cb
    https://doi.org/10.1002/ajmg.a.33085

    View record at Wiley
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  3. 3
    Familial recurrence of SOX2 anophthalmia syndrome:phenotypically normal mother with two affected daughters

    المؤلفون: Terri L. Young, Nkecha Hughes, Jie Zhou, Rosanne Keep, Marybeth Hummel, Darnelle Dorsainville, James A. Katowitz, Lisa A. Schimmenti, Femida Kherani, David R. FitzPatrick, Adele Schneider, Tanya Bardakjian

    المصدر: Schneider, A, Bardakjian, T M, Zhou, J, Hughes, N, Keep, R, Dorsainville, D, Kherani, F, Katowitz, J, Schimmenti, L A, Hummel, M, Fitzpatrick, D R & Young, T L 2008, ' Familial recurrence of SOX2 anophthalmia syndrome : phenotypically normal mother with two affected daughters ', American Journal of Medical Genetics Part A, vol. 146A, no. 21, pp. 2794-8 . https://doi.org/10.1002/ajmg.a.32384

    مصطلحات موضوعية: Adult, Proband, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.disease_cause, Microphthalmia, Ultrasonography, Prenatal, Article, SOX2, stomatognathic system, Pregnancy, Anophthalmos, medicine, Genetics, Humans, Genetics(clinical), Child, Genetics (clinical), DNA Primers, Sequence Deletion, Mutation, Anophthalmia, Base Sequence, Mosaicism, business.industry, SOXB1 Transcription Factors, Brain, Heterozygote advantage, Syndrome, medicine.disease, eye diseases, Phenotype, Child, Preschool, embryonic structures, Female, sense organs, business, Haploinsufficiency

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::786b49e0aab1b2612158e30816ec2d9a
    https://www.pure.ed.ac.uk/ws/files/8915208/Familial_recurrence_of_SOX2_anophthalmia_syndrome.pdf

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