160 results on '"Antonarakis, S.E."'
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2. List of Contributors
3. Guidelines for investigating causality of sequence variants in human disease
4. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
5. Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
6. Karyotypic flexibility of the complex cancer genome and the role of polyploidization in maintenance of structural integrity of cancer chromosomes
7. Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)
8. A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y
9. LRP5 gene polymorphisms and idiopathic osteoporosis in men
10. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
11. The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome
12. Refined Genetic Mapping of the Autosomal Recessive Non-Syndromic Deafness Locus DFNB8 on Human Chromosome 21q22.3
13. Detection of aneuploidies by paralogous sequence quantification
14. Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation
15. Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency
16. Multipoint Mapping Studies of Six Loci on Chromosome 11
17. HGVS Recommendations for the Description of Sequence Variants: 2016 Update
18. P3987Targeted exome sequencing for mendelian cardiac disorders within the Genome Clinic in Geneva
19. Isolation, expression, and subcellular localization of the mouse Tmprss3
20. DNAH3: characterisation of the full length gene and mutation search in patients with Primary Ciliary Dyskinesia
21. DsRNAi and overexpression of the C.elegans orthologue of MADSO1, a novel HC21 gene, suggest an important role in embryonic development and adult morphogenesis
22. Maternally-transmitted MECP2 gene deletion in a 4-year-old boy with cognitive impairment and developmental delay
23. Human Chromosome 21: Mapping of the chromosomes and cloning of cDNAs
24. A locus for a severe form of X-linked myopia maps to the pseudoautosomal region of Xq28
25. Locus heterogeneity in Knobloch syndrome
26. A chromosome 21 cSNP map and database
27. Systematic gene identification based on the genomic sequence of human chromosome 21
28. Spinocerebellar ataxia type 12 (SCA12): Additional evidence for a causative role of the CAG repeat expansion in PPP2R2
29. Isolation and characterization of a novel gene encoding a protein with UBA and SH3 domains on Human Chromosome 21q22.3; its exclusion for the autosomal recessive deafness locus, DFNB10
30. Mice trisomic for a BAC with the single minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome
31. A double balanced chromosomal translocation, with development delay and Primary/Ciliary Dyskinesia (PCD), suggests candidate genomic regions for PCD loci
32. Mutations in the RUNX1/CBFA2/AML1 gene in dominant familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD-AML)
33. The DNAH11 (axonemal heavy chain dynein type 11) gene is mutated in one form of Primary Ciliary Dyskinesia
34. A novel mutation mechanism, insertion of [Beta]-satellite repeats, in a transmembrane protease gene causes the autosomal recessive deafness DFNB10
35. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
36. Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
37. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
38. Assessment of transcript reconstruction methods for RNA-seq
39. A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas
40. Identifying protein-coding genes in genomic sequences
41. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
42. A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia
43. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III:Bipolar disorder
44. Multiplex targeted high‐throughput sequencing for Mendelian cardiac disorders
45. High-Throughput Sequencing and Rare Genetic Diseases
46. Report of the committee on the genetic constitution of chromosome 21
47. Report of the Fifth International Workshop on Human Chromosome 21 Mapping 1994
48. Report of the 4th International Workshop on Human Chromosome 21
49. Report of the committee on the genetic constitution of chromosome 21
50. CNVs and genetic medicine (excitement and consequences of a rediscovery)
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