Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

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http://www.wikidata.org/entity/Q57640710

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scientific article published on 28 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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name

Clinical exome sequencing for ...... a suspected Mendelian disorder

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Clinical exome sequencing for ...... a suspected Mendelian disorder

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Item

label

Clinical exome sequencing for ...... a suspected Mendelian disorder

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Clinical exome sequencing for ...... a suspected Mendelian disorder

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Clinical exome sequencing for ...... a suspected Mendelian disorder

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Clinical exome sequencing for ...... a suspected Mendelian disorder

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P1476

Clinical exome sequencing for ...... a suspected Mendelian disorder

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P2093

Alicia Braxton

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Christine M Eng

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Chunjing Qu

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Donna M Muzny

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Elizabeth A Normand

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Fan Xia

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Francesco Vetrini

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Hongzheng Dai

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Ignatia B Van den Veyver

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Lauren E Westerfield

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P2860

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

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

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Infant Mortality Statistics From the 2013 Period Linked Birth/Infant Death Data Set.

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

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.

P2888

s13073-018-0582-x

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scholarly article

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10.1186/S13073-018-0582-X

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P407

English

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P478

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Avinash V Dharmadhikari

Yaping Yang

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2018-09-28T00:00:00Z

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P6179

1107297056

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30266093

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molecular medicine

molecular biology

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6162951

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