167 results on '"Dharmadhikari, Avinash"'
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2. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
3. Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.
4. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
5. Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
6. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
7. 169 Curating the fetal genome: experience of the ClinGen prenatal gene curation expert panel (GCEP)
8. Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
9. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
10. 54. VMD4Kids: A highly sensitive NGS panel to detect low-level mosaic variants in vascular anomalies and overgrowth disorders
11. Growth Curve Analysis of Cumulative Automobile Defects
12. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
13. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
14. Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
15. Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
16. Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care Center
17. Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease
18. Two-Sample Tests Based on Cumulative Incidence Functions from Coherent Systems
19. Some Bounds on Reliability of Coherent Systems of IFRA Components
20. Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins
21. The Epilepsy Genetics Initiative: a final summary
22. 13. Revisiting centromeric polymorphisms: Implications for POC and prenatal interphase FISH studies
23. Follow-up of an abnormal NIPS result (T13) leads to identification of mosaic 13q31.1q34 tetrasomy associated with a neocentromeric sSMC
24. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
25. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
26. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
27. 1007 Umbilical cord segment collection allows for comprehensive genetic diagnostic testing at delivery
28. Casual Genetic Variants in Stillbirth
29. Causal Genetic Variants in Stillbirth
30. Effectiveness of a Pre-Conception Education Program in India at Improving Fertility Rates.
31. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
32. 44. UMI-based expanded NGS panel in precision molecular diagnosis of vascular anomalies: Early results.
33. Additional file 1: of Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
34. eP496 - Follow-up of an abnormal NIPS result (T13) leads to identification of mosaic 13q31.1q34 tetrasomy associated with a neocentromeric sSMC
35. eP377 - The Epilepsy Genetics Initiative: a final summary
36. TOWARDS UNDERSTANDING ENHANCEMENT OF QUALITY AND PRODUCTIVITY ASPECTS OF PREGNANCY/BIRTH OF CHILDREN UNDER SUPRAJANAN SCHEME.
37. Use of Exome Sequencing for Infants in Intensive Care Units
38. Lethal lung hypoplasia and vascular defects in mice with conditionalFoxf1overexpression
39. Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
40. Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease
41. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
42. Two deletions overlapping a distantFOXF1enhancer unravel the role of lncRNALINC01081in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins
43. Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice
44. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain
45. NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
46. Fetus - An Independent Entity/Personality: The Manashakti Research Centre Approach.
47. CD19 expression in acute leukemia is not restricted to the cytogenetically aberrant populations
48. Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
49. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
50. CD19 Expression in t(8;21)-Negative Acute Myeloid Leukemia Is Not Restricted to Cytogenetically Aberrant Populations.
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