LEOPARD syndrome

Results: 15



#Item
1Genetic genealogy / Medical genetics / Noonan syndrome / Turner syndrome / PTPN11 / LEOPARD syndrome / Webbed neck / Costello syndrome / SOS1 / Health / Genodermatoses / Syndromes

Noonan Syndrome First description The first description of Noonan syndrome (NS) dates back to 1883, when a student named Kobylinski reported on a male patient with several phenotypical characteristics. In 1963, paediatri

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Source URL: www.ssbp.org.uk

Language: English - Date: 2015-05-13 15:58:07
2Genetics / Genetic genealogy / Noonan syndrome / Turner syndrome / PTPN11 / SOS1 / LEOPARD syndrome / Webbed neck / KRAS / Health / Genodermatoses / Syndromes

SOCIETY FOR THE STUDY OF BEHAVIOURAL PHENOTYPES An International Organisation The SSBP is a Registered Charity: Charity No:Noonan Syndrome

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Source URL: www.qcidd.com.au

Language: English - Date: 2013-02-13 00:06:40
3Rare diseases / Noonan syndrome / Williams syndrome / Pectus carinatum / Cryptorchidism / Turner syndrome / LEOPARD syndrome / Health / Syndromes / Genodermatoses

Noonan Syndrome Information Sheet - to be included in the Personal Health Records of people who have been diagnosed as having Noonan Syndrome (The material in this sheet has been derived from ‘Therapeutic Guidelines:

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Source URL: www.cddh.monash.org

Language: English - Date: 2006-04-26 01:11:45
4Genodermatoses / Neuro-cardio-facial-cutaneous syndromes / Neurological disorders / Brain tumor / Neurofibroma / Neurofibromin 1 / Schwannomatosis / LEOPARD syndrome / Malignant peripheral nerve sheath tumor / Medicine / Health / Oncology

European Journal of Human Genetics[removed], 131–138 & 2007 Nature Publishing Group All rights reserved[removed] $30.00 www.nature.com/ejhg PRACTICAL GENETICS

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Source URL: www.nfnetwork.org

Language: English - Date: 2012-08-30 12:44:00
5Endocrinology / Human reproduction / Polycystic ovary syndrome / Syndromes / Value added tax / X86-64 / Windows / Mac OS X Snow Leopard / Royalties / Computer architecture / Health / Microsoft Windows

PDFlib pCOS purchase order and licensing options

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Source URL: www.pdflib.com

Language: English - Date: 2013-02-05 07:47:05
6Genodermatoses / Syndromes / Signal transduction / Protein kinases / Neuro-cardio-facial-cutaneous syndromes / STK11 / LEOPARD syndrome / Lentigo / PTEN / Medicine / Health / Biology

The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumorigenesis

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Source URL: segen.nichd.nih.gov

Language: English - Date: 2013-02-11 11:19:21
7Medical genetics / Syndromes / Neuro-cardio-facial-cutaneous syndromes / Noonan syndrome / Cardiofaciocutaneous syndrome / LEOPARD syndrome / Costello syndrome / SOS1 / PTPN11 / Genodermatoses / Health / Genetic genealogy

PDF Document

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Source URL: www.peds.ufl.edu

Language: English - Date: 2009-02-27 17:50:50
8Genodermatoses / Syndromes / Noonan syndrome / Medical genetics / LEOPARD syndrome / Virtual Global University / Hypertrophic cardiomyopathy / Medicine / Health / Genetic genealogy

Rare Disorders of the MAPK pathway; Current status/ future directions

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Source URL: www.eshg.org

Language: English - Date: 2012-05-11 05:09:17
9Genodermatoses / Neuro-cardio-facial-cutaneous syndromes / Syndromes / Neurological disorders / Noonan syndrome / LEOPARD syndrome / Developmental neuroscience / PTPN11 / Costello syndrome / Health / Medicine / Genetic genealogy

3rd  InternaHonal  MeeHng  on   GeneHc  Syndromes  of  the   Ras/MAPK  Pathway:  Towards   a  TherapeuHc  Approach   Poster  Abstracts  

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Source URL: www.cfcsyndrome.org

Language: English - Date: 2013-08-11 16:01:59
10Genetic genealogy / Neuro-cardio-facial-cutaneous syndromes / Syndromes / Neurological disorders / Developmental neuroscience / LEOPARD syndrome / Neurofibromatosis type I / Noonan syndrome / Neurofibroma / Medicine / Health / Genodermatoses

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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Source URL: www.ncbi.nlm.nih.gov

Language: English
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