Genetic disorders

Results: 455



#Item
101Hematopathology / Sickle-cell disease / Thalassemia / Medical genetics / Hemoglobin / Globin / Genetic counseling / Genetic resistance to malaria / ICD-10 Chapter III: Diseases of the blood and blood-forming organs /  and certain disorders involving the immune mechanism / Medicine / Health / Genetics

Sickle Cell Anaemia What is sickle cell anaemia? Sickle cell anaemia (also known as sickle cell disease) is a blood disorder affecting haemoglobin production. Haemoglobin is a protein in the blood that carries oxygen aro

Add to Reading List

Source URL: www.genomics.health.wa.gov.au

Language: English - Date: 2010-03-16 02:07:55
102Medical genetics / Pancreas disorders / Pediatrics / Channelopathy / Cystic fibrosis / Sweat test / Congenital absence of the vas deferens / Point mutation / Genetic testing / Biology / Health / Medicine

1216 Consultation Protocol to guide the assessment of testing for hereditary mutations in the Cystic Fibrosis conductance Transmembrane Regulator (CFTR) gene February 2014

Add to Reading List

Source URL: www.msac.gov.au

Language: English - Date: 2014-11-19 23:54:21
103Neurological disorders / Medical genetics / Transthyretin / Tafamidis / Familial amyloid neuropathy / Polyneuropathy / Amyloidosis / Genetic testing / Carpal tunnel syndrome / Health / Medicine / Biology

1222 Final Decision Analytic Protocol (DAP) to guide the assessment of transthyretin (TTR) genetic testing to establish the diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP) for access to tafamidis meg

Add to Reading List

Source URL: www.msac.gov.au

Language: English - Date: 2014-10-28 21:24:17
104Biology / Transthyretin / Tafamidis / Medical genetics / Familial amyloid neuropathy / Amyloidosis / Polyneuropathy / Genetic testing / Carpal tunnel syndrome / Health / Neurological disorders / Medicine

1222 Consultation Decision Analytic Protocol (DAP) to guide the assessment of transthyretin (TTR) genetic testing to establish the diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP) for access to tafami

Add to Reading List

Source URL: www.msac.gov.au

Language: English - Date: 2014-10-28 21:24:17
105Autism / Pervasive developmental disorders / Neurological disorders / Personal development / Self-care / Asperger syndrome / DNA / Developmental disorder / Genetic testing / Health / Medicine / Biology

Newsletter June Quarter Issue[removed]Self Help Queensland Inc, Sunnybank Community Hall, 121 Lister Street (PO Box 353) SUNNYBANK 4109 Ph/Fax[removed]Email: [removed] www.selfhelpqld.org.au

Add to Reading List

Source URL: www.selfhelpqld.org.au

Language: English - Date: 2014-11-04 06:46:29
106Pancreas disorders / Pediatrics / Syndromes / Genetic disorder / Genetics / Cystic fibrosis / Holoprosencephaly / Down syndrome / Health / Medicine / Medical genetics

Measuring the impact of genetic disease in the WA population

Add to Reading List

Source URL: www.genomics.health.wa.gov.au

Language: English - Date: 2009-07-24 03:28:48
107Biology / Pediatrics / Thalassemia / Alpha-thalassemia / Hydrops fetalis / Globin / Hemoglobin / Genetic testing / Sickle-cell disease / Medicine / Health / Hemoglobins

Alpha (α) Thalassaemia What is alpha (α) thalassaemia? The health of carriers of α thalassaemia Thalassaemia is a group of blood disorders

Add to Reading List

Source URL: www.genomics.health.wa.gov.au

Language: English - Date: 2010-03-16 01:42:33
108

HAPPY HOLIDAYS Canadian Marfan Association Increasing Awareness of Marfan Syndrome and Genetic Aortic Disorders JOYEUSES FÊTES

Add to Reading List

Source URL: www.marfan.ca

Language: French - Date: 2014-12-09 12:07:01
    109Biology / Hematopathology / Sickle-cell disease / Thalassemia / Beta-thalassemia / Alpha-thalassemia / Hemoglobin E / Globin / Hemoglobin / Medicine / Health / Hemoglobins

    Family Planning and Genetic Blood Disorders

    Add to Reading List

    Source URL: www.genomics.health.wa.gov.au

    Language: English - Date: 2010-03-16 01:44:04
    110Molecular biology / Microarrays / Chromosomes / SNP array / Copy-number variation / Fluorescence in situ hybridization / Aneuploidy / Deletion / Chromosomal translocation / Biology / Genetics / Cytogenetics

    High-resolution molecular karyotyping to detect genetic disorders Constitutional SNP array karyotyping Chromosome constitutional microarray analysis Moderate to severe mental retardation occurs in approximately 1 percent

    Add to Reading List

    Source URL: www.beaumontlaboratory.com

    Language: English - Date: 2014-07-01 14:39:06
    UPDATE