Genetic disorders

Results: 455



#Item
51Medical genetics / Neurodegenerative disorders / Spinocerebellar ataxia / Dentatorubral-pallidoluysian atrophy / Trinucleotide repeat disorder / Ataxia / Neurodegeneration / Polyglutamine tract / Dominance / Neurological disorders / Health / Genetic genealogy

Indian J Med Res 141, February 2015, ppCommentary An understanding of spinocerebellar ataxia Advances in molecular genetics techniques have

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Source URL: www.icmr.nic.in

Language: English - Date: 2015-04-17 06:57:28
52

Next Generation Technology for PGD for Genetic Disorders and 24-chromosome Aneuploidy Testing -Sponsored by Illumina 8:00-8:30 8:30-9:00 9:00-9:30 9:30-10:00

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Source URL: www.pgdis.org

- Date: 2015-03-12 18:55:02
    53Medical genetics / Neurological disorders / Genetics / Medical specialties / Human reproduction / Preimplantation genetic diagnosis / Spinocerebellar ataxia / Genetic testing / Penetrance / Medicine / Health / Biology

    SCABestPracticeGuidelines-ForPublication-WebsiteVersion

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    Source URL: www.emqn.org

    Language: English - Date: 2010-09-02 04:28:51
    54Pediatrics / Medical tests / Rare diseases / Neurological disorders / Genetic testing / Genetic counseling / Screening / Newborn screening / Genetic disorder / Medicine / Health / Medical genetics

    SUMMERTeens seek genetic testing in record numbers: Keeping cancer at bay

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    Source URL: www.gsnv.org.au

    Language: English - Date: 2012-12-11 23:52:02
    55Fabry disease / Lysosomal storage disease / Medicine / Fabry / Genetic disorder / Lipid storage disorders / Rare diseases / Health

    Fabry AwarenessPDF1

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    Source URL: www.shire.com

    Language: English - Date: 2015-04-01 10:25:49
    56Chemistry / Molecular biology / Polymerase chain reaction / Amplifiers / Genetics / Nucleic acid test / Nucleic acid / Multiplex / Real-time polymerase chain reaction / Biology / Laboratory techniques / Science

    Organization Genetic Disorders FDA-Approved CE Marked Certified & Standardized Reference Materials

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    Source URL: wwwn.cdc.gov

    Language: English - Date: 2013-06-20 10:04:04
    57Syndromes / Genodermatoses / Neurological disorders / Angelman syndrome / Cytogenetics / Harry Angelman / Chromosome 15 / UBE3A / Genomic imprinting / Genetics / Health / Biology

    What is Angelman Syndrome? Angelman Syndrome (AS) is a rare neuro-genetic disorder named after an English paediatrician, Dr Harry Angelman, who first described the syndrome inThe AS gene

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    Source URL: www.qcidd.com.au

    Language: English - Date: 2013-07-26 01:42:28
    58Autism / Syndromes / Communication disorders / Neurological disorders / Pervasive developmental disorders / Rett syndrome / MECP2 / Genetic disorder / Medical genetics / Medicine / Health / Biology

    AussieRett Celebrating Genetic Diversity Exhibition

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    Source URL: www.aussierett.org.au

    Language: English - Date: 2011-12-13 23:09:20
    59Syndromes / Neurological disorders / Pervasive developmental disorders / Communication disorders / Rett syndrome / Scoliosis / Genetic disorder / Andreas Rett / CDKL5 / Health / Medicine / Autism

    Issue eight june 2008 Involving People in Research Symposium First time and

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    Source URL: www.aussierett.org.au

    Language: English - Date: 2011-10-06 02:48:14
    60Seizure types / Epilepsy / Rare diseases / Genodermatoses / Tuberous sclerosis / Neurological disorders / Hamartoma / West syndrome / Angiomyolipoma / Medicine / Health / Brain

    Tuberous Sclerosis Definition of Tuberous Sclerosis Tuberous Sclerosis is a multi-system genetic disease in which there are tuberlike growths in the brain and other major organs. It is an autosomal dominant condition, al

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    Source URL: www.cddh.monash.org

    Language: English - Date: 2012-03-27 00:15:56
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