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Syndromdiagnostik Program

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Program as of June 2013

Main auditorium, Forskningsbygget (”Glassbygget”)

Radiumhospitalet, Montebello

NB! New location this year!

Wednesday August 28th

12.00 - 13.00 Registration. Coffee, tea, snack

13.00 - 13.15 Auditorium is open

13.15 - 13.25 Welcome

13.25 -14.10 Sequencing copy number variants. Han Brunner

14.10 - 14.50 Small pieces in big jigsaws. Dian Donnai

14.50 - 15.10 Break with snack. Deliver PowerPoint slides for Wednesday

15.10 - 16.00 Deciphering Developmental Disorders Project. David FitzPatrick

16.00 - 17.30 Case presentations with a short break

Thursday August 29th

08.00 - 09.00 Registration. Coffee, tea

09.00 - 09.15 Auditorium is open. Deliver PowerPoint slides

09.15 - 09.20 Welcome

09.20 - 09.50 Mendelian disorder of painlessness. Geoff Woods

09.50 - 10.10 To be announced. Gunnar Houge

10.10 - 10.50 Case presentations

10.50 - 11.10 Break with a snack. Deliver PowerPoint slides

11.10 - 11.40 Anopthalmia, microphthalmia and coloboma. David FitzPatrick

11.40 - 12.10 Primary microcephaly: from the rat people to the mother and daughter

centriole. Geoff Woods

12.10 - 13.00 Case presentations

13.00 - 14.15 Lunch. Deliver PowerPoint slides

14.15 - 15.45 Case presentations

15.45 - 16.00 Break with a snack

References

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