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Genetic disorders
Results: 455

#	Item
261	The University of Chicago Genetic Services Laboratories 5841 S. Maryland Ave., Rm. G701, MC 0077, Chicago, Illinois[removed]Toll Free: (888) UC GENES[removed]Local: ([removed]FAX: ([removed] Add to Reading List Source URL: www.curecmd.org Language: English - Date: 2013-09-26 19:23:00 Biology Muscular system Neurological disorders Centronuclear myopathy Myopathy Congenital myopathy FHL1 Nemaline myopathy Muscle biopsy Health Anatomy Muscular dystrophy
262	Guide to Understanding Multiple Sulfatase Deficiency (MSD[removed]removed] www.mpssociety.org.uk Add to Reading List Source URL: www.mpssociety.org.uk Language: English - Date: 2013-06-10 10:14:46 Genetic genealogy Medical genetics Mucopolysaccharidosis Multiple sulfatase deficiency Lysosomal storage disease Sulfatase Syndromes Health Rare diseases Lipid storage disorders
263	The Value of a Genetic Diagnosis for Individuals with Intellectual Disabilities: Optimizing Healthcare and Function across the Lifespan Add to Reading List Source URL: www.interprofessional.ubc.ca Language: English - Date: 2014-02-05 12:41:46 Childhood psychiatric disorders Developmental neuroscience Developmental psychology Intelligence tests Mental retardation Intelligence quotient Developmental disorder Developmental disability Disability Psychiatry Medicine Health
264	Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O’Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD[removed]Tetrasomy 18p: Report of the m Add to Reading List Source URL: www.pediatrics.uthscsa.edu Language: English - Date: 2012-02-15 12:38:00 Health Biology Tetrasomy Scoliosis Genetic disorders 18p- Tetrasomy 18p Genetics 18p
265	Recessive Inheritance Recessive disorders are often rare, with very few people affected within one family.To show a recessive disease , you need two mutant copies of a gene (alleles). Both parents are carriers – one no Add to Reading List Source URL: www.genomeatlantic.ca Language: English - Date: 2010-04-12 09:28:20 Genetic disorder Sex linkage Dominance Recessive Mendelian inheritance Cystic fibrosis Mutation Gene Transheterozygote Genetics Biology Philosophy of biology
266	Progressive Spastic Paraparesis: Hereditary Spastic Paraplegia and Its Relation to Primary and Amyotrophic Lateral Sclerosis John K. Fink, M.D.1 ABSTRACT Add to Reading List Source URL: sp-foundation.org Language: English - Date: 2014-07-15 14:55:21 Medical genetics Motor neurone disease Hereditary spastic paraplegia Syndromes Neurological disorders Spastic paraplegia 15 Spinocerebellar ataxia Spasticity MASA syndrome Health Rare diseases Genetic genealogy
267	update C A N A V A N F O U N D A T I O N Add to Reading List Source URL: www.canavanfoundation.org Language: English - Date: 2012-10-24 14:47:08 Lipid storage disorders Rare diseases Medical genetics Canavan disease Medical genetics of Jewish people Genetic testing Tay–Sachs disease Genetic counseling Canavan Health Medicine Genetics
268	Microsoft Word - nbs-1genechange.doc Add to Reading List Source URL: www.in.gov Language: English - Date: 2014-10-23 17:39:48 Rare diseases Pancreas disorders Channelopathy Cystic fibrosis Sweat test Cystic Fibrosis Foundation Newborn screening Genetic counseling Cystic fibrosis transmembrane conductance regulator Health Medicine Pediatrics
269	Department of Human Genetics Division of Medical Genetics www.genetics.emory.edu Fabry Disease: Important Facts for Women Add to Reading List Source URL: genetics.emory.edu Language: English - Date: 2009-03-30 13:10:53 Rare diseases Fabry disease Lysosomal storage disease Enzyme replacement therapy Medical genetics Genetic disorder Alpha-galactosidase Fabry Genzyme Medicine Health Lipid storage disorders
270	What is the Function of Autism-linked Genes? Autism Spectrum Disorders (ASD) have a strong genetic link. Certain genes can increase the risk for an individual to develop autism. Recent studies have shown that some of the Add to Reading List Source URL: www.neurodevnet.ca Language: English - Date: 2013-06-05 18:19:02 Autism Neurophysiology Nervous system Neurobiology Developmental neuroscience Brain Neuron Synapse Heritability of autism Biology Neuroscience Medicine

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