Titlebook: Genomic Disorders; The Genomic Basis of James R. Lupski,Pawel Stankiewicz Book 2006 Humana Press 2006 DNA.chromosome.diseases.evolution.gen

Jackson

书目名称Genomic Disorders影响因子(影响力)




书目名称Genomic Disorders影响因子(影响力)学科排名




书目名称Genomic Disorders网络公开度




书目名称Genomic Disorders网络公开度学科排名




书目名称Genomic Disorders被引频次




书目名称Genomic Disorders被引频次学科排名




书目名称Genomic Disorders年度引用




书目名称Genomic Disorders年度引用学科排名




书目名称Genomic Disorders读者反馈




书目名称Genomic Disorders读者反馈学科排名

–FER

Francis Balestra,Gérard Ghibaudosignificant role not only in common recurrent deletions and duplications, but also in other rearrangements including unusual sized (i.e., uncommon, recurrent and nonrecurrent) chromosomal deletions, reciprocal translocations, and marker chromosomes. DNA sequence analysis from both common and unusual

首创精神

暴行

Devices for Cardiac Resynchronization:e to the choice of discrete sites for strand exchange have been identified. NF1 -REP-mediated NF1 microdeletions involve 13 additional genes, whereas JJAZ1 -mediated microdeletions involve the same genes but one. NF1 microdeletions are of great interest because they predispose to a heavy tumor burde

Intend

没血色

Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p significant role not only in common recurrent deletions and duplications, but also in other rearrangements including unusual sized (i.e., uncommon, recurrent and nonrecurrent) chromosomal deletions, reciprocal translocations, and marker chromosomes. DNA sequence analysis from both common and unusual

没血色

Chromosome 22q11.2 Rearrangement Disorders q11.2) syndrome. In contrast to VCFS/DGS, dup(22)(q11.2; q11.2) and CES, der(22) syndrome is caused by a different molecular mechanism. Der(22) disorder arises in offspring of normal carriers of the constitutional t(1 1 ;22) (q23.3; q1 1.2) translocation by recombination between AT-rich (high AT se

混合,搀杂

Neurofibromatosis 1e to the choice of discrete sites for strand exchange have been identified. NF1 -REP-mediated NF1 microdeletions involve 13 additional genes, whereas JJAZ1 -mediated microdeletions involve the same genes but one. NF1 microdeletions are of great interest because they predispose to a heavy tumor burde

dragon

structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variat

euphoria

https://doi.org/10.1007/978-3-658-19630-1omic tools, the understanding of this highly sophisticated sensory neuronal pathway has been rather sketchy. In this chapter we summarize the relevant progress made in the last decade, and highlight the initial elucidation of two classes of olfactory deficits and their possible underlying genetic mechanisms.