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

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Grants 1987 2031

Research Output 1977 2017

1 Citations

Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency

Cardenas, V., DiPaola, F., Adams, S. D., Holtz, A. M. & Ahmad, A. Jul 1 2017 In : Journal of Pediatrics. 186, p. 179-182 4 p.

Research output: Research - peer-reviewArticle

1 Citations
Marfan Syndrome
Genetic Markers
Phenotype
Chromosome 15 ring
Chromosomes, Human, Pair 15

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. Oct 1 2017 In : Familial Cancer. 16, 4, p. 561-566 6 p.

Research output: Research - peer-reviewArticle

Germ-Line Mutation
Melanoma
Neoplasms
Telomere
Thyroid Neoplasms