Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

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Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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Unexpected Findings in a Child ...... Clinical Diagnostic Paradigm.

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Unexpected Findings in a Child ...... Clinical Diagnostic Paradigm.

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Unexpected Findings in a Child ...... Clinical Diagnostic Paradigm.

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P1476

Unexpected Findings in a Child ...... e Clinical Diagnostic Paradigm

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Catherine Mercer

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David Hunt

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Eleanor G Seaby

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Gaia Andreoletti

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Rodney D Gilbert

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Sarah Ennis

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P2860

How I treat juvenile myelomonocytic leukemia

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

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113

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scholarly article

case report

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10.3389/FPED.2017.00113

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P478

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Reuben J Pengelly

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2017-05-22T00:00:00Z

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28589114

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5438966

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