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Treats Children

Pamela L Trapane, MD

Clinical Geneticist

Clinical Geneticist

4.9 /5 54 ratings
Photo of Pamela L Trapane
(904) 633-0920

Research at a glance

Research activity

26 publications

1,144 citations

Why is this important?

Active clinical trials

Rare Disease Registry
Investigator
Pamela L Trapane
Status
Accepting Candidates
Ages
0 Years - 100 Years
Sexes
All

My publications

26 publications

2014

Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.

Journal of the International Neuropsychological Society : JINS

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2012

A rare presentation of neonatal stridor.

Clinical pediatrics

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2011

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Cell

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2010

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Human mutation

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2010

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

European journal of human genetics : EJHG

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