Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

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Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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Diagnostic Approach to Microde ...... ion: Challenges in Four Cases.

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Diagnostic Approach to Microde ...... ion: Challenges in Four Cases.

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Diagnostic Approach to Microde ...... ion: Challenges in Four Cases.

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Diagnostic Approach to Microde ...... ion: Challenges in Four Cases.

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Diagnostic Approach to Microde ...... ion: Challenges in Four Cases.

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Diagnostic Approach to Microde ...... ion: Challenges in Four Cases.

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P1476

Diagnostic Approach to Microde ...... tion: Challenges in Four Cases

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P2093

Ana P Dos Santos

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Elaine Lustosa Mendes

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Fabíola P Monteiro

http://www.w3.org/2001/XMLSchema#string

Matheus de Mello Copelli

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P2860

Detailed analysis of 22q11.2 with a high density MLPA probe set

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.

Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.

P304

244-252

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scholarly article

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10.1159/000477598

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P433

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P478

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Vera L Gil-da-Silva-Lopes

Ilária Cristina Sgardioli

Társis Paiva Vieira

P577

2017-06-24T00:00:00Z

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P698

28878608

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5582448

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