44 results on '"Tassabehji, May"'
Search Results
2. GTF2IRD1 in Craniofacial Development of Humans and Mice
3. GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation
4. Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome
5. Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
6. Opposite effects on facial morphology due to gene dosage sensitivity
7. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update
8. Infantile spasms is associated with deletion of the MAG12 gene on chromosome 7q11.23-q21.11
9. Discriminating power of localized three-dimensional facial morphology
10. Ancestry of the AUTS2 family–A novel group of polycomb-complex proteins involved in human neurological disease
11. In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene
12. Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome
13. Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era
14. GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes
15. Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era
16. Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
17. Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
18. Mutations in GDF6 Are Associated With Vertebral Segmentation Defects in Klippel-Feil Syndrome
19. Human genetic disease is greatly influenced by the underlying fragility of evolutionarily ancient genes
20. Functional basic reading skills in Williams syndrome
21. A rat model of maternal intermittent fasting during pregnancy impairs fetal growth but does not alter maternofetal folate transport
22. Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis
23. Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients
24. Rapamycin Inhibits Smooth Muscle Cell Proliferation and Obstructive Arteriopathy Attributable to Elastin Deficiency
25. A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome
26. DNA Copy Number Variations at Chromosome 7p14.1 and Chromosome 14q11.2 Are Associated with Dupuytrenʼs Disease
27. Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients
28. Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
29. Claudin 13, a Member of the Claudin Family Regulated in Mouse Stress Induced Erythropoiesis
30. Genome-Wide High-Resolution Screening in Dupuytren's Disease Reveals Common Regions of DNA Copy Number Alterations
31. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome
32. Inefficient Search of Large-Scale Space in Williams Syndrome: Further Insights on the Role of LIMK1 Deletion in Deficits of Spatial Cognition
33. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
34. Autosomal dominant inheritance of Williams???Beuren syndrome in a father and son with haploinsufficiency for FKBP6
35. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome
36. Congenital Heart Disease.
37. Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes
38. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
39. Characterization of an expressible nonclassical class I HLA gene
40. GTF2IRD 1 in Craniofacial Development of Humans and Mice.
41. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
42. Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development.
43. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
44. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.
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