Documentos relacionados

1. Traip controls mushroom body size by suppressing mitotic defects.
2. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
3. Time is of the essence: the molecular mechanisms of primary microcephaly.
4. Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
5. Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
6. De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
7. Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
8. A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
9. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
10. Expression Analyses of Polo-Like Kinase 4, a Gene Product Responsible for Autosomal Recessive Microcephaly and Seckel Syndrome, during Mouse Brain Development.