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

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

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Profiles

No photo of Ayesha Ahmad

Ayesha Ahmad

Person: Academic

19992031
No photo of Mark C Hannibal

Mark C Hannibal

Person: Academic

19902020
No photo of Jeffrey W Innis
19832031

Grants 1987 2031

Research Output 1979 2018

Atopic disorders in CHARGE syndrome: A retrospective study and literature review

Kong, F. & Martin, D. M. Apr 1 2018 In : European Journal of Medical Genetics. 61, 4, p. 225-229 5 p.

Research output: Contribution to journalArticle

CHARGE Syndrome
Retrospective Studies
Drug Hypersensitivity
Food Hypersensitivity
Hypersensitivity

Chromatin in nervous system development and disease

Iwase, S. & Martin, D. M. Mar 1 2018 In : Molecular and Cellular Neuroscience. 87, p. 1-3 3 p.

Research output: Contribution to journalEditorial

Nervous System Diseases
Epigenomics
Chromatin
Nervous System
Manuscripts

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

Antonellis, A., Oprescu, S. N., Griffin, L. B., Heider, A., Amalfitano, A. & Innis, J. W. Jan 1 2018 (Accepted/In press) In : Human mutation.

Research output: Contribution to journalArticle

Amino Acyl-tRNA Synthetases
Loss of Heterozygosity
Phenylalanine-tRNA Ligase
Amino Acid-Specific Transfer RNA
Phenotype