• 1 Citations
  • 1 h-Index
20182019
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Fingerprint Dive into the research topics where Emanuele Agolini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Filamins Medicine & Life Sciences
Mutation Medicine & Life Sciences
Lung Diseases Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Glypicans Medicine & Life Sciences
Glycosylation Chemical Compounds
Genes Medicine & Life Sciences
Periventricular Nodular Heterotopia Medicine & Life Sciences

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Research Output 2018 2019

  • 1 Citations
  • 1 h-Index
  • 8 Article
  • 1 Review article

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

Sturiale, L., Bianca, S., Garozzo, D., Terracciano, A., Agolini, E., Messina, A., Palmigiano, A., Esposito, F., Barone, C., Novelli, A., Fiumara, A., Jaeken, J. & Barone, R., Sep 16 2019, In : Glycoconjugate Journal.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Glycosylation
Polysaccharides
Defects
Serum

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

Pascolini, G., Majore, S., Valiante, M., Bottillo, I., Laino, L., Agolini, E., Novelli, A., Grammatico, B., Calvani, M. & Grammatico, P., Feb 4 2019, In : Psychiatric Genetics.

Research output: Contribution to journalArticle

Intellectual Disability
Genes
Gene Duplication
Genome-Wide Association Study
Receptor Protein-Tyrosine Kinases

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Pelizzo, G., Collura, M., Puglisi, A., Pappalardo, M. P., Agolini, E., Novelli, A., Piccione, M., Cacace, C., Bussani, R., Corsello, G. & Calcaterra, V., Mar 29 2019, In : BMC Pediatrics. 19, 1

Research output: Contribution to journalArticle

Filamins
Lung Diseases
Periventricular Nodular Heterotopia
Lung
Mutation
1 Citation (Scopus)

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Pelizzo, G., Collura, M., Puglisi, A., Pappalardo, M. P., Agolini, E., Novelli, A., Piccione, M., Cacace, C., Bussani, R., Corsello, G. & Calcaterra, V., Mar 29 2019, In : BMC Pediatrics. 19, 1, 86.

Research output: Contribution to journalReview article

Filamins
Lung Diseases
Periventricular Nodular Heterotopia
Lung
Mutation

Pathogenic Variants in GPC4 Cause Keipert Syndrome

Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M. & 10 others, Reardon, W., Shaw-Smith, C., Leventer, R. J., Delatycki, M. B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N. J. & Lockhart, P. J., Apr 5 2019, In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Glypicans
Mouth Abnormalities
Craniofacial Abnormalities
Developmental Bone Disease
Hypertelorism