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2. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Issa L; Mueller K; Seufert K; Kraemer N; Rosenkotter H; Ninnemann O; Buob M; Kaindl AM; Morris-Rosendahl DJ Orphanet J Rare Dis; 2013 Apr; 8():59. PubMed ID: 23587236 [TBL] [Abstract][Full Text] [Related]
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4. CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly. Issa L; Kraemer N; Rickert CH; Sifringer M; Ninnemann O; Stoltenburg-Didinger G; Kaindl AM Cereb Cortex; 2013 Sep; 23(9):2245-60. PubMed ID: 22806269 [TBL] [Abstract][Full Text] [Related]
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7. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. Hassan MJ; Khurshid M; Azeem Z; John P; Ali G; Chishti MS; Ahmad W BMC Med Genet; 2007 Sep; 8():58. PubMed ID: 17764569 [TBL] [Abstract][Full Text] [Related]
8. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. Tan CA; Topper S; Ward Melver C; Stein J; Reeder A; Arndt K; Das S Brain Dev; 2014 Apr; 36(4):351-5. PubMed ID: 23726037 [TBL] [Abstract][Full Text] [Related]
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14. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly. Hashmi JA; Al-Harbi KM; Ramzan K; Albalawi AM; Mehmood A; Samman MI; Basit S Ann Saudi Med; 2016; 36(6):391-396. PubMed ID: 27920410 [TBL] [Abstract][Full Text] [Related]
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20. What primary microcephaly can tell us about brain growth. Cox J; Jackson AP; Bond J; Woods CG Trends Mol Med; 2006 Aug; 12(8):358-66. PubMed ID: 16829198 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]