23 results on '"Kalscheuer, Vera M."'
Search Results
2. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
3. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
4. Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1
5. A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
6. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
7. Variants in CUL4B are Associated with Cerebral Malformations
8. Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
9. Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations
10. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
11. Expanding the clinical phenotype of patients with a ZDHHC9 mutation
12. Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality
13. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
14. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
15. Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS
16. Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci
17. Novel GDI1 Mutation in a Large Family With Nonsyndromic X-Linked Intellectual Disability
18. Common Pathological Mutations in PQBP1 Induce Nonsense-Mediated mRNA Decay and Enhance Exclusion of the Mutant Exon
19. A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation
20. Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
21. Disruption of the TCF4 Gene in a Girl With Mental Retardation but Without the Classical Pitt-Hopkins Syndrome
22. Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium
23. Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis
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