Jordi Rosell
Palma, PM, Spain
Last Updated: 09/26/2026
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Found 16 publications
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.
Journal: American journal of hematology
Published: July 24, 2024
Identification of copy-number variants in patients with overgrowth disorders.
Journal: Clinical genetics
Published: June 17, 2024
t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies.
Journal: Cancer genetics
Published: May 21, 2021
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Journal: Frontiers in genetics
Published: January 12, 2021
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Journal: Molecular psychiatry
Published: June 05, 2019
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Journal: BMC medical genomics
Published: March 20, 2018
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Journal: American journal of medical genetics. Part A
Published: February 27, 2018
Recommendations for the use of microarrays in prenatal diagnosis.
Journal: Medicina clinica
Published: October 19, 2016
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Journal: European journal of human genetics : EJHG
Published: May 21, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Journal: Human mutation
Published: March 20, 2015
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
Journal: American journal of medical genetics. Part A
Published: June 16, 2014
Last Updated: 09/26/2026