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Scientific Expertise

Posters  —  1 April Apr 2019

Family history of autism spectrum disorder in the preconception/prenatal genetic counseling session

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Posters  —  1 April Apr 2019

Predictive hereditary cancer panel testing in minors: The experience of laboratory genetic counselors

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Posters  —  1 April Apr 2019

Pathogenic? Expanding the spectrum of DMD variants

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Posters  —  1 April Apr 2019

Thrombocytopenia-absent radius syndrome 1q21.1 deletions in the prenatal and postnatal setting: Analysis of inheritance and ascertainment in a large cohort

Read More about Thrombocytopenia-absent radius syndrome 1q21.1 deletions in the prenatal and postnatal setting: Analysis of inheritance and ascertainment in a large cohort
Posters  —  1 April Apr 2019

Family history of autism spectrum disorder (ASD) in the preconception/prenatal genetic counseling session

Read More about Family history of autism spectrum disorder (ASD) in the preconception/prenatal genetic counseling session
Posters  —  1 April Apr 2019

The role of whole genome sequencing in clinical diagnosis

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Posters  —  1 April Apr 2019

Recommendations versus practice patterns: The uptake of chromosomal microarray testing in prenatal patients with fetal structural ultrasound abnormalities

Read More about Recommendations versus practice patterns: The uptake of chromosomal microarray testing in prenatal patients with fetal structural ultrasound abnormalities
Posters  —  1 April Apr 2019

Counseling complexities of expanded carrier screening: An ATM case report

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Posters  —  1 April Apr 2019

Microarray detection of mosaicism in prenatal and POC specimens: More complexity with better technology

Read More about Microarray detection of mosaicism in prenatal and POC specimens: More complexity with better technology
Posters  —  1 April Apr 2019

Diagnosing Angelman and Prader-Willi syndromes prenatally: DNA methylation outcomes following varied initial indications

Read More about Diagnosing Angelman and Prader-Willi syndromes prenatally: DNA methylation outcomes following varied initial indications
Posters  —  1 April Apr 2019

MaterniT® 21 PLUS performance in lower fetal fraction samples

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Posters  —  31 March Mar 2019

Proteomic genotyping: When quantitation doesn´t matter, but quality still does

Read More about Proteomic genotyping: When quantitation doesn´t matter, but quality still does