A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. - Wikidata - awgldk - TriplyDB

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

http://www.wikidata.org/entity/Q39817063

about

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals Further clinical and molecular delineation of the 15q24 microdeletion syndrome Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.Genomics, intellectual disability, and autism A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients Disorders caused by chromosome abnormalities.Chromosome 15q24 microdeletion syndrome.The genetics of microdeletion and microduplication syndromes: an update.De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping Duplication hotspots, rare genomic disorders, and common disease.Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis.Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL

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P2860

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

http://www.wikidata.org/entity/Q39817063

description

2007 nî lūn-bûn

@nan

2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

@zh-hans

2007年学术文章

@zh-my

2007年学术文章

@zh-sg

2007年學術文章

@yue

2007年學術文章

@zh

2007年學術文章

@zh-hant

name

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

@en

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

@nl

type

label

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

@en

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

@nl

prefLabel

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

@en

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

@nl

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European Journal of Pediatrics

P1476

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

@en

P2093

Denise Horn

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Hans-Hilger Ropers

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Holger Tönnies

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Luitgard M Graul-Neumann

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Reinhard Ullmann

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Stefan Mundlos

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Ulrike Grieben

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P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

A bacterial artificial chromosome library for sequencing the complete human genome

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

Secretory carrier membrane proteins interact and regulate trafficking of the organellar (Na+,K+)/H+ exchanger NHE7

CGHPRO -- a comprehensive data analysis tool for array CGH.

Congenital disorders of glycosylation

Man2C1, an alpha-mannosidase, is involved in the trimming of free oligosaccharides in the cytosol.

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

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