Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
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LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesAn integrated approach for analyzing clinical genomic variant data from next-generation sequencing.Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based studyGenetic evaluation of short stature.Automation of molecular-based analyses: a primer on massively parallel sequencing.Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsNext-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese PopulationThe Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter StudyNoonan syndrome - a new survey.Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencingTargeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.Novel rare variations in genes that regulate developmental change in N-methyl-d-aspartate receptor in patients with schizophrenia.Molecular characterization of oral squamous cell carcinoma using targeted next-generation sequencing.Hypomethylation and decreased expression of BRG1 in the myocardium of patients with congenital heart disease.
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P2860
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 23 January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Diagnosis of Noonan syndrome a ...... et next generation sequencing.
@en
Diagnosis of Noonan syndrome a ...... et next generation sequencing.
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type
label
Diagnosis of Noonan syndrome a ...... et next generation sequencing.
@en
Diagnosis of Noonan syndrome a ...... et next generation sequencing.
@nl
prefLabel
Diagnosis of Noonan syndrome a ...... et next generation sequencing.
@en
Diagnosis of Noonan syndrome a ...... et next generation sequencing.
@nl
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P2860
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Diagnosis of Noonan syndrome a ...... et next generation sequencing.
@en
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Adriano Angioni
Anwar Baban
Elisa Pisaneschi
Maria Cristina Digilio
Maria Gnazzo
Maria Lisa Dentici
Pietro Sirleto
Rossana Scavelli
Rossella Capolino
Serena Russo
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P2888
P356
10.1186/1471-2350-15-14
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2014-01-23T00:00:00Z
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P6179
1043325915