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Publications by Ruxandra Bachmann‐Gagescu
A New Mouse Model for the Neurodevelopmental Ciliopathy Joubert Syndrome
Journal of Pathology
Forensic Medicine
Pathology
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Mice With a Conditional Deletion of Talpid3 ( KIAA0586 ) – A Model for Joubert Syndrome
Journal of Pathology
Forensic Medicine
Pathology
Joubert Syndrome: A Model for Untangling Recessive Disorders With Extreme Genetic Heterogeneity
Journal of Medical Genetics
Genetics
Joubert Syndrome: A Rare Cause for Developmental Delay
Journal of Medical Science And clinical Research
Joubert Syndrome With Ocular Defect
Joubert Syndrome: A Rare Radiological Case
Cureus
Species Differences in the Expression of Ahi1, a Protein Implicated in the Neurodevelopmental Disorder Joubert Syndrome, With Preferential Accumulation to Stigmoid Bodies
Journal of Comparative Neurology
Neuroscience
Diffusion Tensor Imaging in Joubert Syndrome
American Journal of Neuroradiology
Medicine
Nuclear Medicine
Neurology
Imaging
Radiology
KIAA0586is Mutated in Joubert Syndrome
Human Mutation
Genetics
ΔNp63 Knockdown Mice: A Mouse Model for AEC Syndrome
American Journal of Medical Genetics, Part A
Genetics