1,248 results on '"Gleeson, Joseph G."'
Search Results
202. Disorders of Cerebellar and Brainstem Development
203. Contributors
204. Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyria
205. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with joubert syndrome
206. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration
207. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
208. Evaluating human mutation databases for “treatability” using patient-customized therapy
209. Biallelic BICD2variant is a novel candidate for Cohen-like syndrome
210. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
211. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
212. Rodent models of cerebral cortical developmental defects
213. A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)
214. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
215. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
216. Studies of the candidate genes in X-linked congenital cerebellar hypoplasia
217. LIS1 and DCX1 and Classical Lissencephaly
218. The Molecular Basis of Joubert Syndrome and Related Disorders
219. Co-Occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers
220. New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect
221. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
222. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
223. A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder
224. Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring
225. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
226. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
227. Closing in on Mechanisms of Open Neural Tube Defects
228. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
229. MINPP1prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
230. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
231. Editor's evaluation: Functional connectivity subtypes associate robustly with ASD diagnosis
232. Zika virus evolution in the presence of dengue virus-elicited cross-reactive immunity
233. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism
234. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
235. Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance
236. mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly
237. Subcortical laminar (band) heterotopia
238. Neuronal migration disorders: from genetic diseases to developmental mechanisms
239. Genetic regulation of human brain development: lessons from Mendelian diseases
240. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
241. Autism risk in offspring can be assessed through quantification of male sperm mosaicism
242. Primary Cilia and Brain Wiring, Connecting the Dots
243. Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
244. Expanding CEP290 Mutational Spectrum in Ciliopathies
245. Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder
246. MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement
247. Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
248. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
249. Association of common variants in the Joubert syndrome gene (AHI1) with autism
250. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
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