Search

Search Constraints

You searched for: Author/Creator Doherty, Dan

Search Results

1. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Issue 4 (22nd December 2018)

2. Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Issue 2 (12th January 2012)

3. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. Issue 8 (13th January 2017)

4. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Issue 3 (16th December 2015)

5. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Issue 1 (21st October 2015)

6. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Issue 12 (1st November 2020)

9. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Issue 8 (25th June 2022)

10. SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Issue 9 (21st October 2021)