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Our newsletter appears once every two months and reports about new and improved products. In addition, it contains news and announcements from MRC-Holland, among others information on upcoming workshops, recently identified problems associated with the use of MLPA, new publications and calls for testing new products.

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MRC-Holland newsletter 2018 May snapshot

new products
P476-ZNRF3
Adrenocortical tumours and other solid tumours
P479-TCF12 - ERF
Craniofacial disorders
improved products
P260-PALB2-RAD50-RAD51C-RAD51D
Hereditary predisposition to Cancer
P103-DPYD
Dihydropyrimidine dehydrogenase (DPYD) deficiency
P152-ABCA4 mix-2
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies
P151-ABCA4 mix-1
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies
P267-Dandy-Walker
Dandy-Walker Malformation (DWM)
P226-SDH
Paragangliomas (PGL)
P335-ALL-IKZF1
ALL
P340-EHMT1
9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.
P378-MUTYH
Colon cancer, stomach cancer (hereditary)
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