381 results on '"Gibson, William T."'
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2. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
3. Activation of β-catenin in mesenchymal progenitors leads to muscle mass loss
4. Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
5. Benchmarking brain organoid recapitulation of fetal corticogenesis
6. Transient Polycomb activity represses developmental genes in growing oocytes
7. Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
8. Maintenance of thermogenic adipose tissues despite loss of the H3K27 acetyltransferases p300 or CBP.
9. Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
10. Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyse Human EED Variant Function
11. GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
12. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
13. Neuronal PAS Domain Protein 4 Suppression of Oxygen Sensing Optimizes Metabolism during Excitation of Neuroendocrine Cells
14. In Memoriam: Dr Nicholas Groves, FBS
15. The H3K27 acetyltransferase p300 is dispensable for thermogenic adipose tissue formation and function
16. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD
17. Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants
18. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
19. Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT
20. Behavioral Responses to a Repetitive Visual Threat Stimulus Express a Persistent State of Defensive Arousal in Drosophila
21. A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice
22. Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice
23. Additional file 1 of Transient Polycomb activity represses developmental genes in growing oocytes
24. Rare diseases of epigenetic origin: Challenges and opportunities
25. How to Do Systems Analysis: Primer and Casebook
26. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
27. A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling
28. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
29. ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison
30. Loss of maternal EED results in postnatal overgrowth
31. EED-associated overgrowth in a second male patient
32. Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study
33. GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
34. Transient Polycomb activity represses developmental genes in growing oocytes
35. Individual-based chaos: Extensions of the discrete logistic model
36. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
37. TSC2 c.1864C>T Variant Associated with Mild Cases of Tuberous Sclerosis Complex
38. Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT.
39. A novel mutation in EED associated with overgrowth
40. Control of the Mitotic Cleavage Plane by Local Epithelial Topology
41. Benchmarking brain organoid recapitulation of fetal corticogenesis
42. Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report
43. Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury
44. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
45. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
46. Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study.
47. The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
48. The Ethics of Counseling: A National Survey of Certified Counselors.
49. PATRONAGE AND CONNECTION: THE CAREER OF THE REV. WILLIAM TALBOT (1720-1811), CHANCELLOR OF SALISBURY
50. Chapter 4 Cell Topology, Geometry, and Morphogenesis in Proliferating Epithelia
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