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Giovanni-Armenise Harvard Summer Fellowship for ItalianUndergraduate Students For outstanding students in biomedical advanced degrees(1 st , 2 nd year “specialistica” or 4 th -6 th year Medicine) Summer fellowship to conduct research in a HarvardMedical School lab for 8-10 weeks (2000 Euro for 2012) For application information: www.armeniseharvard.org Application deadline before Christmas Look us up on Facebook!
How do you approach a heterogeneous disorder?• Collect a large cohort of patients with accurate clinicaldescription• Study the frequency and distribution of mutations in knowngenes to provide genetic testing guidelines• Study families with no mutations in known genes to identifynovel disease causes
Page 1 and 2: Exome sequencing and functional val
Page 3 and 4: Dystroglycanopathies are extremely
Page 5 and 6: Homozygosity mapping provides linka
Page 7 and 8: Homozygosity mapping in a dystrogly
Page 9 and 10: CONFIGURE SU PLEGADOR FL SERIES EN
Page 11 and 12: gtdc2 loss of function severely aff
Page 13 and 14: Human GTDC2 mRNA rescues the morpha
Page 15 and 16: B3GALNT2 is another new dystroglyca
Page 17 and 18: Chris WalshMuna Al SaffarBrenda Bar
Page 19 and 20: GTDC2 is expressed in the brain and
Page 21 and 22: gtdc2 mRNA is highly expressed in t
Page 23 and 24: gtdc2 loss of function disrupts org
Page 25: Post-doctoral positions availableMa

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