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Rare diseases
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#	Item
61	Case Report Journal of Orthopaedic Case Reports 2016 April-June: 6(2):PageRetrocalcaneal Bursitis due to Rare Calcaneal Osteochondroma in Adult Male : Excision and Outcome Add to Reading List Source URL: www.jocr.co.in Language: English - Date: 2016-05-14 04:20:20 Rare diseases Skeletal system Soft tissue disorders Sarcoma Osteochondroma Skeletal disorders Hereditary multiple exostoses Exostosis Chondrosarcoma Bone tumor Osteochondritis dissecans Bone
62	Center for Neuroscience and Cell Biology Neurogenetics Laboratory University of Coimbra Request Form for Genetic testing of Neurodegenerative Diseases Per patient, two EDTA blood 3 ml tubes should be taken and each tube Add to Reading List Source URL: www.cnbc.pt Language: English - Date: 2014-05-20 12:37:47 Rare diseases Genetics Dementia Cognitive disorders C9orf72 Transmissible spongiform encephalopathies Frontotemporal lobar degeneration Amyotrophic lateral sclerosis LRRK2 Fatal familial insomnia Prion Neurogenetics
63	Microsoft PowerPoint - update.ppt Add to Reading List Source URL: www.tchain.com Language: English - Date: 2011-10-11 22:35:41 Neurological disorders RTT Rare diseases Benign paroxysmal positional vertigo DixHallpike test Epley maneuver Vertigo Nystagmus Dizziness Superior canal dehiscence Vestibular nerve Otorhinolaryngology
64	Mental Retardation: Vol. 44, No. 6, pp. 430–432, December 2006 The “Big Bang” Theory and Down Syndrome Robert Perske I am convinced that some of the most joyful, life-changing conventions in our field are those th Add to Reading List Source URL: www.robertperske.com Language: English - Date: 2009-09-23 23:01:54 Syndromes Rare diseases Down syndrome Intellectual disability Prenatal diagnosis Kathryn McGee
65	AVROBIO Inc. Launches to Develop Novel, Clinical-Stage Cell and Gene Therapies Targeting Immuno-Oncology and Rare Diseases Disruptive Therapies with Potential to Displace Standard of Care Treatments for Acute Myeloid Leu Add to Reading List Source URL: www.ccrm.ca Language: English - Date: 2016-02-18 12:07:01 Biotechnology University of Toronto Emerging technologies Induced stem cells Stem cells Gene therapy University Health Network Toronto Western Research Institute Krembil Research Institute
66	Newborn Metabolic Screening Table of Contents Add to Reading List Source URL: chfs.ky.gov Language: English - Date: 2016-08-18 18:39:29 Rare diseases Epidemiology Neonatology Newborn screening Medical tests Pediatrics Screening WIC Infant Inborn error of metabolism Newborn Screening Saves Lives Act
67	Birt-Hogg-Dubé syndrome: diagnosis and management Add to Reading List Source URL: www.bhdsyndrome.org Language: English - Date: 2011-03-17 20:08:21 Rare diseases BirtHoggDub syndrome Folliculin Lymphangioleiomyomatosis Cancer syndrome Chromophobe cell Pneumothorax Renal cell carcinoma Fibrofolliculoma Trichodiscoma Birt BHD
68	Alström Syndrome A guide to greater understanding of this rare condition For consultants, GPs and other health professionals as well as parents seeking to know more about Alström Syndrome Add to Reading List Source URL: www.alstrom.org.uk Language: English - Date: 2014-02-19 07:33:38 Ciliopathy Organ failure Kidney diseases Rare diseases Genetic disorders Alstrm syndrome ALMS1 Carl-Henry Alstrm Kidney failure Chronic kidney disease Kidney Acute kidney injury
69	Microsoft WordABSTRACTS.docx Add to Reading List Source URL: www.ipem.ac.uk Language: English - Date: 2016-03-29 09:28:08 Medicine Clinical medicine Health Magnetic resonance imaging RTT Rare diseases Cryogenics Preterm birth Pulmonary hypoplasia EXIT procedure Medical ultrasound Fluid-attenuated inversion recovery
70	Dr. Daesung Shin, Senior Scientist, HJKRI Dr. Daesung Shin received his Ph.D. degree from the department of Biological Sciences in Korea Advanced Institute of Science and TechnologyHe then went to Stem Cell Rese Add to Reading List Source URL: hjkri.buffalo.edu Language: English - Date: 2014-03-17 09:02:19 Medicine Health Clinical medicine Rare diseases Neurological disorders Krabbe disease Leukodystrophies Krabbe Neurodegeneration

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