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To participate in a best practice meeting you must be a registered member of the network. Following the meeting, draft best practice guidelines are produced and published on this and other related websites, for example in the best practice guidelines of the UK Clinical Molecular Genetics Society (CMGS) and the Swiss Society of Medical Genetics (SSMG). Best practice guidelines resulting from meetings organised by EMQN can be downloaded from the list below:
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Current guidelines upto 4 years old. Guidelines older than 4 years have been retired - see below.
Duchenne and Becker Muscular Dystrophies
Hereditary Breast and Ovarian Cancer
Hereditary Sensory and Motor Neuropathies
Maturity Onset Diabetes of the Young
Prader-Willi / Angelman Syndromes
Spinocerebellar Ataxia's (2010)
6 month publishers embargo expired Aug 2010. We are now able freely distribute the PDF version.
Guidelines in preparation following a best practice meeting.
Cardiac Genetics (Long QT Syndrome)
Congenital Adrenal Hyperplasia
Neurofibromatosis Type 1
Joint meeting between EMQN and CMGS
Retired Guidelines - If you require copies of retired documents, please contact Outi Kamarainen (office@emqn.org).
Y-Chromosome microdeletions
Links to other sites hosting practice guidelines:
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