439 results on '"Weksberg, R"'
Search Results
2. Contributors
3. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants
4. Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling
5. A distinct microvascular endothelial gene expression profile in severe IUGR placentas
6. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
7. Epigenetics
8. Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures
9. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
10. Beckwith–Wiedemann Syndrome
11. Unbalanced Placental Expression of Imprinted Genes in Human Intrauterine Growth Restriction
12. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
13. Alström syndrome: further evidence for linkage to human chromosome 2p13
14. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
15. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome
16. An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
17. The adult phenotype in Costello syndrome
18. Postmaturity in a genetic subtype of schizophrenia
19. To look or not to look during vaccination: A pilot randomized trial
20. Overgrowth syndromes and genomic imprinting: from mouse to man
21. Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen
22. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
23. Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia
24. Complementation and Gene Transfer Studies in Fanconi Anemia
25. A new syndrome: Endodermal sinus tumor, complex CHD, polycystic-hypoplastic left kidney, dysplastic teeth, tapered fingers, and mild developmental delay
26. Paternal uniparental disomy 11p15, hemihyperplasia and hepatoblastoma
27. Further delineation of cardiac abnormalities in Costello syndrome
28. Genetic Testing for BWS: Introduction of a Simple Quantitative Method for UPD Detection
29. Monozygotic twins discordant for Beckwith-Wiedemann syndrome also have different patterns of KvDMR1 methylation and KCNQ1OT1 allelic transcription in the chromosome 11p15 imprinted region
30. [p57.sup.KIP2] mutations associated with loss of IGF2 imprinting in Beckwith-Wiedemann syndrome
31. Russell-Silver Syndrome: Establishment of a possible critical region on 7p14 and characterization of putative candidate genes
32. Molecular assessment of 22q11.2 deletion in adults with schizophrenia or tetralogy of Fallot
33. AGG Interruptions in the CGG Trinucleotide Repeat Tract of the FMR1 Gene May Contribute to Stability of Fragile X Premutations
34. Symptoms of Schizophrenia in adults with 22q Deletion Syndrome
35. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
36. NSD1 mutations generate a genome-wide DNA methylation signature
37. Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling
38. Functional impact of global rare copy number variation in autism spectrum disorders
39. Adult phenotype in Costello syndrome (vol 136, pg 128, 2005)
40. BIOLOGY
41. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
42. EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines
43. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
44. Savant Characteristics in a Child with Developmental Delay and Deletion in the Short Arm of Chromosome 20
45. Developmental Biology: Frontiers for Clinical Genetics: Overgrowth syndromes and genomie imprinting: from mouse to man
46. Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen
47. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype
48. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
49. Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128–135, 2005)
50. Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.