208 results on '"Srivastava, Anand K."'
Search Results
2. UBE2A-related X-linked intellectual disability
3. Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms
4. AGTR2 Mutations in X-Linked Mental Retardation
5. Co-expression of long non-coding RNAs and autism risk genes in the developing human brain
6. Mutations in Ionotropic AMPA Receptor 3 Alter Channel Properties and Are Associated with Moderate Cognitive Impairment in Humans
7. Coregulation of Processing and Translation: Mature 5′ Termini of Escherichia coli 23S Ribosomal RNA Form in Polysomes
8. Metamorphic evolution of the contact aureole of the Jhirgadandi pluton, Sonbhadra district, Mahakoshal mobile belt, central India
9. Budgeting for the United Nations
10. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability
11. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
12. Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome
13. From ectodermal dysplasia to selective tooth agenesis
14. Evidence that SIZN1 is a candidate X-linked mental retardation gene
15. AGTR2 in brain development and function
16. Ribosomal DNA clusters in pulsed-field gel electrophoretic analysis of human acrocentric chromosomes
17. A Novel in-Frame Deletion in ARX Is Associated With Lissencephaly With Absent Corpus Callosum and Hypoplastic Genitalia
18. Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles
19. EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice
20. Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice
21. 2.2 Study of Efficacy and Safety of Sitagliptin in Patients of Type 2 Diabetes when Added to Insulin Therapy Alone or With Metformin (373-OR)
22. Preparation of extracts and assay of ribosomal RNA maturation in Escherichia coli
23. Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure
24. Integrative genomic analyses for identification and prioritization of long non-coding RNAs associated with autism
25. Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment
26. Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
27. Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.
28. RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome
29. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome
30. Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3
31. Sequence feature-based prediction of protein stability changes upon amino acid substitutions
32. Microarray data integration for genome-wide analysis of human tissue-selective gene expression
33. Structural assessment of the effects of Amino Acid Substitutions on protein stability and protein protein interaction
34. Candidate Agtr2 influenced genes and pathways identified by expression profiling in the developing brain of Agtr2−/y mice
35. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
36. Biological Features for Sequence-Based Prediction of Protein Stability Changes upon Amino Acid Substitutions
37. Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus
38. Evidence thatSIZN1is a candidate X-linked mental retardation gene
39. A Novel GLRA1 Mutation Associated with An Atypical Hyperekplexia Phenotype
40. A translocation t(6;7)(p11–p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
41. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
42. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Medical Genetics Part B (Neuropsychiatric Genetic) 144B:355–360 (2007)
43. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
44. tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement
45. Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
46. Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis
47. Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
48. POMGnT1 gene alterations in a family with neurological abnormalities
49. Evaluation of Solid Dispersions of Clofazimine
50. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
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