Genodermatoses

Results: 645



#Item
201EDA / Hypodontia / Ectodysplasin A2 receptor / Genodermatoses / Hypohidrotic ectodermal dysplasia / Ectodermal dysplasia

  EDI200 – A Biotherapeutic For Treating X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phase 2 clinical study initiated Preclinical data strongly confirms validity of target pathway and therapeutic approach

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Source URL: edimerpharma.com

Language: English - Date: 2014-06-05 15:51:36
202Genodermatoses / Congenital heart defect / Congenital heart disease / Atresia / Pulmonary atresia / Stenosis / Imperforate anus / Turner syndrome / VACTERL association / Health / Medicine / Syndromes

Microsoft Word - Registry Report Text _2_

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Source URL: birthdefects.org

Language: English - Date: 2014-04-01 21:56:08
203Health / Medicine / Neurological disorders / Neuro-cardio-facial-cutaneous syndromes / Neurofibromatosis type I / Genodermatoses / Neurofibromatosis / NF

Be Part of our 2nd Annual Great Steps for NF Walk in Ft. Lauderdale, FL! Dear Friend, The Neurofibromatosis Network (NF Network) is gearing up for our 2nd Annual Great Steps for NF Walk on Saturday, May 3rd at a brand n

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Source URL: www.nfnetwork.org

Language: English - Date: 2014-02-12 10:53:43
204Health / Medicine / Neurofibromatosis type I / Genodermatoses / Neurofibromatosis / NF

Details of the Walk: WHERE? Jay Blanchard Park 2451 N Dean Rd. Orlando, FL[removed]printable map available on our website)

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Source URL: www.nfnetwork.org

Language: English - Date: 2014-07-15 11:28:48
205NF / Neurological disorders / Medicine / Neuro-cardio-facial-cutaneous syndromes / Neurofibromatosis type I / Genodermatoses / Neurofibromatosis / Health

Be Part of our 1st Annual Great Steps for NF Walk in Oxford, NC! Dear Friend, The Neurofibromatosis Network (NF Network) is gearing up for our first ever Great Steps for NF Walk on Saturday, September 27, 2014 in Oxford,

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Source URL: www.nfnetwork.org

Language: English - Date: 2014-06-19 14:45:37
206NF / Neurological disorders / Medicine / Neuro-cardio-facial-cutaneous syndromes / Neurofibromatosis type I / Genodermatoses / Neurofibromatosis / Health

Be Part of our 3rd Annual Great Steps for NF Walk in Orlando, FL! Dear Friend, The Neurofibromatosis Network (NF Network) is gearing up for our 3rd annual Great Steps for NF Walk on Saturday, November 8, 2014 in Orlando,

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Source URL: www.nfnetwork.org

Language: English - Date: 2014-07-15 11:30:20
207Brain tumor / Neuro-cardio-facial-cutaneous syndromes / Genodermatoses / Neurofibromatosis type I / Neurofibroma / Neurofibromin 1 / Pilocytic astrocytoma / Pheochromocytoma / Vestibular schwannoma / Medicine / Health / Neurological disorders

Clinical Manifestations and Management of Neurofibromatosis Type 1 James H. Tonsgard, MD Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neur

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Source URL: www.nfnetwork.org

Language: English - Date: 2012-08-30 12:44:00
208Neurological disorders / Neurosurgery / Brain tumor / Schwannomatosis / Neurofibromatosis type II / Genodermatoses / Neurofibromatosis / Neuro-cardio-facial-cutaneous syndromes / Merlin / Medicine / Health / Oncology

Orphanet Journal of Rare Diseases BioMed Central Open Access

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Source URL: www.nfnetwork.org

Language: English - Date: 2012-08-30 12:44:00
209Genodermatoses / Schindler disease / Lysosomal storage disease / Infantile neuroaxonal dystrophy / Rare diseases / Health / Lipid storage disorders

Climb National Information Centre for Metabolic Diseases Schindler Disease Other names that are used for this condition are: • Alpha-GalNAc Deficiency, Schindler Type • Alpha-Galactosidase B Deficiency

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Source URL: www.climb.org.uk

Language: English - Date: 2014-03-19 09:32:39
210Transcription factors / Syndromes / Rare diseases / Genodermatoses / Genes / IRF6 / Popliteal pterygium syndrome / Van der Woude syndrome / Cleft lip and palate / Biology / Health / Genetics

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Open

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Source URL: www.nature.com

Language: English - Date: 2013-05-06 11:00:08
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