يعرض 1 - 10 نتائج من 11 نتيجة بحث عن '"Genetic disorders."', وقت الاستعلام: 1.39s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

    المؤلفون: Stheneur, Chantal, Collod-Béroud, Gwenaëlle, Faivre, Laurence, Buyck, Jean François, Gouya, Laurent, Le Parc, Jean-Marie, Moura, Bertrand, Muti, Christine, Grandchamp, Bernard, Sultan, Gilles, Claustres, Mireille, Aegerter, Philippe, Chevallier, Bertrand, Jondeau, Guillaume, Boileau, Catherine

    المصدر: European Journal of Human Genetics; Sep2009, Vol. 17 Issue 9, p1121-1128, 8p, 1 Diagram, 2 Charts

    مصطلحات موضوعية: GENETIC mutation, GENETIC disorders, HUMAN genetics, MOLECULAR biology, GENETICS

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  2. 2
    دورية أكاديمية
    The DLX1and DLX2 genes and susceptibility to autism spectrum disorders.

    المؤلفون: Xudong Liu, Novosedlik, Natalia, Wang, Ami, Hudson, Melissa L., Cohen, Ira L., Chudley, Albert E., Forster-Gibson, Cynthia J., Lewis, Suzanne M. E., Holden, Jeanette J. A.

    المصدر: European Journal of Human Genetics; Feb2009, Vol. 17 Issue 2, p228-235, 8p, 1 Diagram, 3 Charts

    مصطلحات موضوعية: CEREBRAL cortex, AUTISM, TRANSCRIPTION factors, GABA, EPILEPSY, GENETIC disorders, HUMAN genetics

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  3. 3
    دورية أكاديمية
    A genome-wide scan suggests a susceptibility locus on 5p13 for nasopharyngeal carcinoma.

    المؤلفون: Li-Fu Hu, Qian-Hui Qiu, Sheng-Miao Fu, Di Sun, Magnusson, Kristinn, Bing He, Lindblom, Annika, Ernberg, Ingemar

    المصدر: European Journal of Human Genetics; Mar2008, Vol. 16 Issue 3, p343-349, 7p, 1 Diagram, 1 Chart, 2 Graphs

    مصطلحات موضوعية: NASOPHARYNX cancer, SOUTHEAST Asians, GENETIC disorders, CHROMOSOME abnormalities, HUMAN genetics, GENETICS, DISEASES

    مصطلحات جغرافية: GUANGDONG Sheng (China), CHINA

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  4. 4
    دورية أكاديمية
    Tag SNP selection for candidate gene association studies using HapMap and gene resequencing data.

    المؤلفون: Zongli Xu, Kaplan, Norman L., Taylor, Jack A.

    المصدر: European Journal of Human Genetics; Oct2007, Vol. 15 Issue 10, p1063-1070, 8p, 2 Charts, 4 Graphs

    مصطلحات موضوعية: HUMAN genetics, GENETICS, GENE mapping, GENETIC techniques, HUMAN gene mapping, GENETIC disorders

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  5. 5
    دورية أكاديمية
    Prion disease genetics.

    المؤلفون: Mead, Simon

    المصدر: European Journal of Human Genetics; Mar2006, Vol. 14 Issue 3, p273-281, 9p, 1 Diagram, 2 Graphs

    مصطلحات موضوعية: CREUTZFELDT-Jakob disease, PRION diseases, CENTRAL nervous system diseases, COMMUNICABLE diseases, GENETIC disorders, HUMAN genetics, PRIONS, GENETIC polymorphisms

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  6. 6
    دورية أكاديمية
    Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

    المؤلفون: Kriek, Marjolein, White, Stefan J., Szuhai, Karoly, Knijnenburg, Jeroen, van Ommen, Gert-Jan B., den Dunnen, Johan T., Breuning, Martijn H.

    المصدر: European Journal of Human Genetics; Feb2006, Vol. 14 Issue 2, p180-189, 10p, 1 Diagram, 3 Charts, 2 Graphs

    مصطلحات موضوعية: GENETIC disorders, GENETIC polymorphisms, GENETICS, GENES, GENOMES, CHROMOSOME analysis, CHROMOSOMES, DNA, PHENOTYPES, HUMAN genetics

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  7. 7
    دورية أكاديمية
    A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.

    المؤلفون: Gordon, Derek, Haynes, Chad, Johnnidis, Christopher, Patel, Shailendra B., Bowcock, Anne M., Ott, Jürg

    المصدر: European Journal of Human Genetics; Sep2004, Vol. 12 Issue 9, p752-761, 10p

    مصطلحات موضوعية: STATISTICS, GENEALOGY, SIMULATION methods & models, GENETIC disorders, GENES, GENETICS, HUMAN genetics

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  8. 8
    دورية أكاديمية
    A trio family study showing association of the lymphotoxin-a N26 (804A) allele with coronary artery disease.

    المؤلفون: Watkins, H.

    المصدر: European Journal of Human Genetics; Sep2004, Vol. 12 Issue 9, p770-774, 5p

    مصطلحات موضوعية: TUMOR necrosis factors, CORONARY disease, FAMILIAL diseases, GENETIC disorders, HUMAN genetics, GENETICS

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  9. 9
    دورية أكاديمية
    Research Network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation.

    المؤلفون: Matthijs, Gert

    المصدر: European Journal of Human Genetics; Apr2005, Vol. 13 Issue 4, p395-397, 3p

    مصطلحات موضوعية: GLYCOSYLATION, GENETIC disorders, DIAGNOSIS, CLINICAL medicine research, HUMAN genetics, GENETICS

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  10. 10
    دورية أكاديمية
    Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

    المؤلفون: Tancredi, Mariella, Sensi, Elisa, Cipollini, Giovanna, Aretini, Paolo, Lombardi, Grazia, Di Cristofano, Claudio, Presciuttini, Silvano, Bevilacqua, Generoso, Caligo, Maria Adelaide

    المصدر: European Journal of Human Genetics; Sep2004, Vol. 12 Issue 9, p775-777, 3p

    مصطلحات موضوعية: BREAST cancer, GENETIC disorders, GENES, OVARIAN cancer, GENETIC mutation, HUMAN genetics, GENETICS

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