Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers

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cfDNA screening and diagnosis of monogenic disorders - where are we heading?Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis.

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Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers

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Noninvasive detection of F8 in ...... plasma of hemophilia carriers

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Noninvasive detection of F8 in ...... plasma of hemophilia carriers

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Noninvasive detection of F8 in ...... plasma of hemophilia carriers

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Noninvasive detection of F8 in ...... plasma of hemophilia carriers

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Irena Hudecova

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Joanna Davies

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Peiyong Jiang

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Rezan A Kadir

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Rossa W K Chiu

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Y M Dennis Lo

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

The European Hematology Association Roadmap for European Hematology Research: a consensus document

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.

Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma.

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.

Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations.

The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Noninvasive whole-genome sequencing of a human fetus.

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340-347

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scholarly article

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10.1182/BLOOD-2016-12-755017

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English

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130

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2017-05-10T00:00:00Z

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28490568

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hemophilia

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5532756

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Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers

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P2860

P2860

Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers

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