- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
Treats Children
Pamela L Trapane, MD
Clinical Geneticist
Pamela L Trapane, MD
(904) 633-0920
Request appointment online
Research at a glance
Top areas of exploration
- Mutation , 5 publications
- Abnormalities, Multiple , 5 publications
- Intellectual Disability , 4 publications
- Genetic Predisposition to Disease , 4 publications
Research activity
Active clinical trials
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
My publications
Filter publications
25 publications
2014
Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.
Journal of the International Neuropsychological Society : JINS
鈥�2012
A rare presentation of neonatal stridor.
Clinical pediatrics
鈥�2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
鈥�2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human mutation
鈥�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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