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Genetic disorders
Results: 455

#	Item
271	Background Educational Need and Purpose Genetic considerations in primary care pediatrics are not limited to rare disorders or Mendelian traits. Genetics, genomics, and epigenetics play a profound role in health and dise Add to Reading List Source URL: www.geneticsinprimarycare.org Language: English - Date: 2014-07-02 18:20:47 Genetic testing Primary care Genomic Medicine Institute Medical genetics Medicine Health Medical ethics
272	experience a e National Niemann-Pick Disease Foundation PERSEVERE Add to Reading List Source URL: www.nnpdf.org Language: English - Date: 2010-08-10 12:45:29 Biology Neurodegenerative disorders Niemann–Pick disease Medicine Sphingomyelin phosphodiesterase 1 Lysosomal storage disease Epididymal secretory protein E1 NPC1 Genetic disorder Lipid storage disorders Rare diseases Health
273	Genetic Evaluation of Children With Developmental Disabilities ACGME Sub-competencies / Developmental Milestones Addressed Patient Care: Gather essential and accurate information about the patient; Make informed diagnost Add to Reading List Source URL: www.geneticsinprimarycare.org Language: English - Date: 2014-07-01 15:31:09 Neurological disorders Pediatrics Autism Fragile X syndrome Mental retardation FMR1 Developmental disability 22q13 deletion syndrome Hypotonia Health Medicine Syndromes
274	experience a e National Niemann-Pick Disease Foundation PERSEVERE Add to Reading List Source URL: www.nnpdf.org Language: English - Date: 2012-01-11 14:43:10 Biology Neurodegenerative disorders Niemann–Pick disease Medicine Sphingomyelin phosphodiesterase 1 Lysosomal storage disease Epididymal secretory protein E1 NPC1 Genetic disorder Lipid storage disorders Rare diseases Health
275	A Genome-Wide Association Study of Depressive Symptoms Add to Reading List Source URL: handls.nih.gov Language: English - Date: 2013-11-23 07:43:44 Abnormal psychology Clinical psychology Genetic epidemiology Genetics Bipolar spectrum Major depressive disorder Genome-wide association study Antidepressant International HapMap Project Mood disorders Psychiatry Biology
276	Disorders Detected By Mississippi Genetic Newborn Screening Secondary Conditions Methylmalonic acidemia with homocystinuria Malonic acidemia Isobutyrylglycinuria Add to Reading List Source URL: msdh.ms.gov Language: English - Date: 2012-03-28 12:35:21 Medical genetics Newborn screening Methylmalonic acidemia Glutaric aciduria type 1 Propionic acidemia Isovaleric acidemia Medium-chain acyl-coenzyme A dehydrogenase deficiency Glutaric acidemia type 2 Carnitine-acylcarnitine translocase deficiency Health Rare diseases Genetic genealogy
277	Center for Genetic Muscle Disorders at Kennedy Krieger Institute Who We Are Add to Reading List Source URL: www.kennedykrieger.org Language: English - Date: 2013-12-31 08:49:43 Muscular dystrophy Motor neurone disease Myopathy Kennedy Krieger Institute Congenital myopathy Neuromuscular disease Muscle biopsy Physical therapy Amyotrophic lateral sclerosis Medicine Health Rare diseases
278	ResearchImpactFinal_white.eps Add to Reading List Source URL: neurodevnet.ca Language: English - Date: 2014-08-01 10:25:47 Health Pervasive developmental disorders Developmental neuroscience Developmental psychology Neurological disorders Developmental disorder Spectrum approach Genetic testing Epidemiology of autism Psychiatry Medicine Autism
279	Winter[removed]Newsletter www.cdhgenetics.com Happy New Year! Inside this edition • GATA6: A new genetic cause of CDH (page 1) Add to Reading List Source URL: www.cdhgenetics.com Language: English - Date: 2013-12-04 17:24:18 Medicine CHERUBS Congenital diaphragmatic hernia Transcription factors Evolutionary biology Genetics GATA6 Congenital heart defect Mutation Health Biology Congenital disorders
280	Neuroradiological, clinical and genetic characterization of new forms of hereditary leukoencephalopathies Principal Investigator: Dr. Donatella Tampieri, MD, FRCPC, Department of Neuroradiology, Montreal Neurological Ins Add to Reading List Source URL: car.ca Language: English - Date: 2013-06-07 13:56:11 Medicine Leukodystrophy Leukoencephalopathy with vanishing white matter CADASIL syndrome Magnetic resonance imaging Neuroradiology Pelizaeus–Merzbacher disease Hypertensive leukoencephalopathy Health Rare diseases Neurological disorders

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