R. Quiroga

发表

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

M. Roselló, C. Orellana, F. Martínez, 2009, Journal of Inherited Metabolic Disease.

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

M. Roselló, C. Orellana, F. Martínez, 2009, Reproductive Biomedicine Online.

Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion

M. Roselló, C. Orellana, F. Martínez, 2009, Cytogenetic and Genome Research.

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

D. Blesa, M. Roselló, C. Orellana, 2010, BMC Medical Genomics.

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

M. Roselló, C. Orellana, F. Martínez, 2010, European journal of medical genetics.

Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

M. Roselló, C. Orellana, F. Martínez, 2007, Journal of Medical Genetics.

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

M. Roselló, C. Orellana, F. Martínez, 2011, Cytogenetic and Genome Research.

Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44

M. Roselló, C. Orellana, F. Martínez, 2010, Cytogenetic and Genome Research.

A case of spanish language disorders with a rare genetic cause

M. Roselló, C. Orellana, F. Martínez, 2009 .

Fetal Arthrogryposis Secondary to a Giant Maternal Uterine Leiomyoma

A. Perales, I. Soler, J. M. Vila-Vives, 2012, Case reports in obstetrics and gynecology.

Expanding the phenotype of PIGP deficiency to multiple congenital anomalies‐hypotonia‐seizures syndrome

F. Martínez-Castellano, R. Llorens-Salvador, R. Quiroga, 2023, Clinical Genetics.