- 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
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Research at a glance
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
26 publications
2009
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
Journal of medical genetics
鈥�2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
American journal of medical genetics. Part A
鈥�2008
Mutation analysis of B3GALTL in Peters Plus syndrome.
American journal of medical genetics. Part A
鈥�2007
A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature.
Cancer genetics and cytogenetics
2003
Deletion 12q: a second patient with 12q24.31q24.32 deletion.
American journal of medical genetics. Part A