about
The diploid genome sequence of an individual humanIdentification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolutionDuplication and relocation of the functional DPY19L2 gene within low copy repeatsA scale invariant clustering of genes on human chromosome 7Ataxia and peripheral nerve hypomyelination in ADAM22-deficient miceIdentification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouseSevere expressive-language delay related to duplication of the Williams-Beuren locus.Contribution of SHANK3 mutations to autism spectrum disorderStructural variation of chromosomes in autism spectrum disorderAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaRNAdb--a comprehensive mammalian noncoding RNA databaseDiscovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.Detection of large-scale variation in the human genomeSp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb developmentVertebrate patatin-like phospholipase domain-containing protein 4 (PNPLA4) genes and proteins: a gene with a role in retinol metabolismEvolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23Genome assembly comparison identifies structural variants in the human genome.Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation proteinMapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.GONOME: measuring correlations between GO terms and genomic positions.Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.Non-random retention of protein-coding overlapping genes in Metazoa.Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskSplit hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.A large noncoding RNA is a marker for murine hepatocellular carcinomas and a spectrum of human carcinomas.Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes.A workshop report on wheat genome sequencing: International Genome Research on Wheat Consortium.An overview of nested genes in eukaryotic genomesFunctional expression of novel human and murine AKR1B genesHigh resolution crystal structure of human β-glucuronidase reveals structural basis of lysosome targeting.Noncoding RNAs in mental retardationRNA regulation: a new genetics?The human genome: genes, pseudogenes, and variation on chromosome 7.Sequence organization and functional annotation of human centromeres.Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.Evolutionary change--patterns and processes.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Human chromosome 7: DNA sequence and biology
@ast
Human chromosome 7: DNA sequence and biology
@en
Human chromosome 7: DNA sequence and biology
@nl
type
label
Human chromosome 7: DNA sequence and biology
@ast
Human chromosome 7: DNA sequence and biology
@en
Human chromosome 7: DNA sequence and biology
@nl
prefLabel
Human chromosome 7: DNA sequence and biology
@ast
Human chromosome 7: DNA sequence and biology
@en
Human chromosome 7: DNA sequence and biology
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Human chromosome 7: DNA sequence and biology
@en
P2093
Ahmed Teebi
Alexander K Hudek
Andrew P Boright
Andrew R Carson
Anne M Summers
Anne W Higgins
Azra H Ligon
Barbara Pober
Batsheva Kerem
Berge A Minassian
P2860
P304
P3181
P356
10.1126/SCIENCE.1083423
P407
P50
P577
2003-05-02T00:00:00Z