Pediatrics - Genetics

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Proteins Medicine & Life Sciences
Fibroblasts Medicine & Life Sciences
Cystine Medicine & Life Sciences
CHARGE Syndrome Medicine & Life Sciences
Cystinosis Medicine & Life Sciences

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Grants 1987 2031

Research Output 1979 2017

A new POT1 germline mutation—expanding the spectrum of POT1-associated cancers

Wilson, T. L. S., Hattangady, N., Lerario, A. M., Williams, C., Koeppe, E., Quinonez, S., Osborne, J., Cha, K. B. & Else, T. Apr 7 2017 In : Familial Cancer. p. 1-6 6 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Melanoma
Neoplasms
Telomere
Thyroid Neoplasms

Clinical characterization of novel chromosome 22q13 microdeletions

Ha, J. F., Ahmad, A. & Lesperance, M. M. Apr 1 2017 In : International Journal of Pediatric Otorhinolaryngology. 95, p. 121-126 6 p.

Research output: Contribution to journalArticle

Chromosomes
Arachnoid Cysts
Microarray Analysis
Hearing
Retrocochlear Diseases
1 Citations

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

McCrory, N. M., Edick, M. J., Ahmad, A., Lipinski, S., Scott Schwoerer, J. A., Zhai, S., Justice, K., Cameron, C. A., Berry, S. A., Pena, L. D. M. & Inborn Errors of Metabolism Collaborative Jan 1 2017 In : Journal of Pediatrics. 180, p. 200-205.e8

Research output: Contribution to journalArticle

Propionic Acidemia
Inborn Errors Metabolism
Symptom Assessment
Information Systems
Newborn Infant