- 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
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
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
2002
Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.
American journal of medical genetics