Experimental 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

Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Cardiac Myosins Medicine & Life Sciences
Alleles Medicine & Life Sciences
Exome Medicine & Life Sciences
Genome Medicine & Life Sciences
Population Medicine & Life Sciences

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Research Output 2002 2019

  • 756 Citations
  • 15 h-Index
  • 54 Article
  • 2 Chapter
  • 2 Review article
  • 1 Comment/debate

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Rabionet, R., Remesal, A., Mensa-Vilaró, A., Murías, S., Alcobendas, R., González-Roca, E., Ruiz-Ortiz, E., Antón, J., Iglesias, E., Modesto, C., Comas, D., Puig, A., Drechsel, O., Ossowski, S., Yagüe, J., Merino, R., Estivill, X. P. & Arostegui, J. I., 1 Dec 2019, In : Scientific reports. 9, 1, 4579.

Research output: Contribution to journalArticle

Open Access
Juvenile Arthritis
Rheumatoid Factor
Mutation
Genes
Exome

Interspecific variation of olfactory preferences in flies, mice, and humans

Manoel, D., Makhlouf, M., Scialdone, A. & Rodrigues Saraiva, L. M., 1 Jan 2019, In : Chemical Senses. 44, 1, p. 7-9 3 p.

Research output: Contribution to journalArticle

Diptera
Exercise Test
Odorants

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations

Madrigal, I., Rabionet, R., Alvarez-Mora, M. I., Sanchez, A., Rodríguez-Revenga, L., Estivill, X. P. & Mila, M., 5 May 2019, In : Gene. 695, p. 12-17 6 p.

Research output: Contribution to journalArticle

Tubulin
Microcephaly
Mutation
Genes
Exome