يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"genomic disorders"', وقت الاستعلام: 0.92s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements

    المؤلفون: Demaerel, Wolfram, Hestand, Matthew S., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., International 22q11.2 Brain and Behavior Consortium, Campbell, Linda, Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.

    المساهمون: The University of Newcastle. Faculty of Science, School of Psychology

    مصطلحات موضوعية: inversion polymorphisms, chromosomes, chromosome 22q11.2, genomic disorders

    العلاقة: American Journal of Human Genetics Vol. 101, Issue 4, p. 616-622; http://hdl.handle.net/1959.13/1394820Test; uon:33772

    الإتاحة: http://hdl.handle.net/1959.13/1394820Test

    View record in BASE النص الكامل

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  2. 2
    The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males

    المؤلفون: Indira B. Taylor, Anne Goriely, Andrew O.M. Wilkie, Irene M.J. Mathijssen, A. Jeannette M. Hoogeboom, Jenny Morton, Richard B. Fisher, Louise C. Wilson, Elizabeth Sweeney, Alexa Kidd, John B. Mulliken, M. Teresa Lourenço, Steven A. Wall, Kazuya Matsumoto, Stephen R.F. Twigg, Han G. Brunner

    المساهمون: Clinical Genetics, Plastic and Reconstructive Surgery and Hand Surgery

    المصدر: American Journal of Human Genetics, 78, 999-1010
    American Journal of Human Genetics, 78, 6, pp. 999-1010
    American Journal of Human Genetics, 78(6), 999-1010. Cell Press

    مصطلحات موضوعية: Male, Heterozygote, Genetics and epigenetic pathways of disease [NCMLS 6], Genetic counseling, Germline mosaicism, Ephrin-B1, Biology, medicine.disease_cause, Germline, Craniofacial Abnormalities, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Germline mutation, Genetics, medicine, Humans, Genetics(clinical), Hypertelorism, Allele, Frontonasal dysplasia, 10. No inequality, Germ-Line Mutation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Mosaicism, 030305 genetics & heredity, Articles, medicine.disease, Pedigree, Genetic defects of metabolism [UMCN 5.1], Female, medicine.symptom

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c788208aa1ad47725322caa4cebe72fTest
    https://doi.org/10.1086/504440Test


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