Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Item
http://www.wikidata.org/entity/Q28258859
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring22q13.3 deletion syndrome: clinical and molecular analysis using array CGH22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndromeA patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 regionPhelan-McDermid Syndrome and SHANK3: Implications for Treatment.Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndromeDefining ploidy-specific thresholds in array comparative genomic hybridization to improve the sensitivity of detection of single copy alterations in cell lines.Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language ImpairmentProspective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Application of array-based comparative genomic hybridization to pediatric neurologic diseasesMitochondrial disease in 22q13 duplication syndrome.Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH.Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.
P2860

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Item
http://www.wikidata.org/entity/Q28258859
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Molecular characterisation of ...... parative genomic hybridisation
@ast
Molecular characterisation of ...... parative genomic hybridisation
@en
Molecular characterisation of ...... parative genomic hybridisation
@nl
type
label
Molecular characterisation of ...... parative genomic hybridisation
@ast
Molecular characterisation of ...... parative genomic hybridisation
@en
Molecular characterisation of ...... parative genomic hybridisation
@nl
prefLabel
Molecular characterisation of ...... parative genomic hybridisation
@ast
Molecular characterisation of ...... parative genomic hybridisation
@en
Molecular characterisation of ...... parative genomic hybridisation
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Molecular characterisation of ...... parative genomic hybridisation
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698