- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
Research at a glance
Top areas of exploration
- Mutation , 5 publications
- Abnormalities, Multiple , 5 publications
- Genetic Predisposition to Disease , 4 publications
- Heterozygote , 4 publications
Research activity
Active clinical trials
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 17 Years
- Sexes
- All
My publications
Filter publications
24 publications
2016
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Pediatrics international : official journal of the Japan Pediatric Society
PubMed • Publisher's site2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome biology
PubMed • Publisher's site2014
Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.
Journal of the International Neuropsychological Society : JINS
PubMed • Publisher's site2014
The childless man.
American journal of medical genetics. Part A
PubMed • Publisher's site2012
A rare presentation of neonatal stridor.
Clinical pediatrics
PubMed • Publisher's site