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
Cystinosis Medicine & Life Sciences
Fibroblasts Medicine & Life Sciences
Cystine Medicine & Life Sciences
CHARGE Syndrome 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

Conclusions to the Supplement, “Extra-Renal Complications of Cystinosis”

Thoene, J. G. Apr 1 2017 In : Journal of Pediatrics. 183, p. S24-S25

Research output: Contribution to journalArticle

Cystinosis
Kidney

Harnessing molecular motors for nanoscale pulldown in live cells

Bird, J. E., Barzik, M., Drummond, M. C., Sutton, D. C., Goodman, S. M., Morozko, E. L., Cole, S. M., Boukhvalova, A. K., Skidmore, J., Syam, D., Wilson, E. A., Fitzgerald, T., Rehman, A. U., Martin, D. M., Boger, E. T., Belyantseva, I. A., Friedman, T. B. & Blanchoin, L. Feb 1 2017 In : Molecular Biology of the Cell. 28, 3, p. 463-475 13 p.

Research output: Contribution to journalArticle

Proteins
Macromolecular Substances
Pseudopodia
Deafness
Myosins