401 results on '"Gibson, William T."'
Search Results
2. SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases
3. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
4. Activation of β-catenin in mesenchymal progenitors leads to muscle mass loss
5. Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
6. Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.
7. Benchmarking brain organoid recapitulation of fetal corticogenesis
8. Transient Polycomb activity represses developmental genes in growing oocytes
9. Redevelopment Plans for Bunker Hill, John S. Gibson, William T. Senson Jr., Charles Luckman, Figueroa Street, Flower Street, Hope Street, Grand Avenue, Olive Street
10. Maintenance of thermogenic adipose tissues despite loss of the H3K27 acetyltransferases p300 or CBP.
11. JOHN E. GIBSON, WILLIAM T. SCHERER AND WILLIAM F. GIBSON * How to do Systems Analysis. Wiley (2007). ISBN-13: 978-0-470-00765-5. 47.50. 360 pp. Hardcover.
12. Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
13. Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyse Human EED Variant Function
14. GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
15. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
16. Neuronal PAS Domain Protein 4 Suppression of Oxygen Sensing Optimizes Metabolism during Excitation of Neuroendocrine Cells
17. In Memoriam: Dr Nicholas Groves, FBS
18. The H3K27 acetyltransferase p300 is dispensable for thermogenic adipose tissue formation and function
19. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD
20. Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants
21. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
22. Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT
23. Behavioral Responses to a Repetitive Visual Threat Stimulus Express a Persistent State of Defensive Arousal in Drosophila
24. A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice
25. Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice
26. Additional file 1 of Transient Polycomb activity represses developmental genes in growing oocytes
27. Rare diseases of epigenetic origin: Challenges and opportunities
28. How to Do Systems Analysis: Primer and Casebook
29. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
30. A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling
31. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
32. ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison
33. Loss of maternal EED results in postnatal overgrowth
34. EED-associated overgrowth in a second male patient
35. Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study
36. GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
37. Transient Polycomb activity represses developmental genes in growing oocytes
38. Individual-based chaos: Extensions of the discrete logistic model
39. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
40. TSC2 c.1864C>T Variant Associated with Mild Cases of Tuberous Sclerosis Complex
41. Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT.
42. A novel mutation in EED associated with overgrowth
43. Control of the Mitotic Cleavage Plane by Local Epithelial Topology
44. Benchmarking brain organoid recapitulation of fetal corticogenesis
45. Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report
46. Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury
47. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
48. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
49. Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study.
50. The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
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