Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
about
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsMicroarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011Characterizing complex structural variation in germline and somatic genomesMeiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Exceptional complex chromosomal rearrangements in three generationsComplex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Phenotypic heterogeneity of genomic disorders and rare copy-number variants.Chromosomal catastrophe is a frequent event in clinically insignificant prostate cancer.Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos.Clinical significance of de novo and inherited copy-number variation.The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisMaternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.Balanced complex chromosome rearrangements: reproductive aspects. A review.Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term OutcomesThe Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders
P2860
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P2860
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
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2011 nî lūn-bûn
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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Balanced into array: genome-wi ...... rangement and a meta-analysis.
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Balanced into array: genome-wi ...... rangement and a meta-analysis.
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type
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Balanced into array: genome-wi ...... rangement and a meta-analysis.
@ast
Balanced into array: genome-wi ...... rangement and a meta-analysis.
@en
prefLabel
Balanced into array: genome-wi ...... rangement and a meta-analysis.
@ast
Balanced into array: genome-wi ...... rangement and a meta-analysis.
@en
P2093
P2860
P356
P1476
Balanced into array: genome-wi ...... rrangement and a meta-analysis
@en
P2093
Bert de Vries
Birgit Sikkema-Raddatz
Conny van Ravenswaaij-Arts
Dorien Lugtenberg
Ernie Bongers
Han Brunner
Helger Yntema
Ilse Feenstra
Joke Verheij
Nicole de Leeuw
P2860
P2888
P304
P356
10.1038/EJHG.2011.120
P50
P577
2011-06-29T00:00:00Z