Concepedia
Statistics
Publications
2
Citations
145
H-Index
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 human genetics, molecular genetics, and genetics.
Publications per year
2012–2017
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 · 112 citations · Full text
Medicine, Genetics, Molecular Genetics +15
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 · 33 citations
Life Sciences, Genetics, Molecular Genetics +14
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