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Sophia Frentz

SF

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Publications

2

Citations

140

H-Index

2

Active since

2012

Affiliations

Victorian Clinical Genetics Services(Current)

Royal Children's Hospital

Hospital Universitario La Paz

Murdoch Children's Research Institute

University of Otago

Sophia Frentz is an author at Victorian Clinical Genetics Services specializing in genetics, morphogenesis, and pathology.

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Publications per year

2012–2017

2

Publications

2

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Eyal Reinstein, Sophia Frentz, Tim Morgan et al. · European Journal of Human Genetics · 2012 · 109 citations · Full text

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Differential regulation of two<i>FLNA</i>transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies

Zandra A. Jenkins, Alison Macharg, Cheng-Yee Chang et al. · Human Mutation · 2017 · 31 citations

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