Private inherited microdeletion/microduplications: implications in clinical practice. - Wikidata - wikimedia - TriplyDB

Private inherited microdeletion/microduplications: implications in clinical practice.

Private inherited microdeletion/microduplications: implications in clinical practice.

http://www.wikidata.org/entity/Q46460730

about

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.Epilepsy and the new cytogenetics.Chromosome abnormalities and the genetics of congenital corneal opacification.A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress.A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.Clinical interpretation of copy number variants in the human genome.Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.The introduction of arrays in prenatal diagnosis: a special challenge.Recurrent duplications of 17q12 associated with variable phenotypes.Complex autism spectrum disorder in a patient with a 17q12 microduplication Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

P2860

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P2860

Private inherited microdeletion/microduplications: implications in clinical practice.

http://www.wikidata.org/entity/Q46460730

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

@yue

2008年學術文章

@zh-hant

name

Private inherited microdeletion/microduplications: implications in clinical practice.

@en

Private inherited microdeletion/microduplications: implications in clinical practice.

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type

label

Private inherited microdeletion/microduplications: implications in clinical practice.

@en

Private inherited microdeletion/microduplications: implications in clinical practice.

@nl

prefLabel

Private inherited microdeletion/microduplications: implications in clinical practice.

@en

Private inherited microdeletion/microduplications: implications in clinical practice.

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J.EJMG.2008.06.003

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European Journal of Medical Genetics

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Private inherited microdeletion/microduplications: implications in clinical practice

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Eleni Katzaki

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Filomena Tiziana Papa

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Ilaria Longo

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Katia Sampieri

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Maria Antonietta Mencarelli

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Marzia Pollazzon

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Paolo Balestri

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Roberto Canitano

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Rosa Mostardini

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Rossella Caselli

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409-416

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scholarly article

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10.1016/J.EJMG.2008.06.003

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5

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51

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Alessandra Renieri

Francesca Ariani

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2008-07-09T00:00:00Z

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18657637

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