Publications
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Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
Frontiers in pediatrics . 11: 1184529-1184529. Number of citations: 1
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Ros, NG, Bailo, PS, Tarancon, RG, Martorell-Sampol L and Alvarez, SI.
No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon
advances in laboratory medicine-avances en medicina de laboratorio . 4(2): 185-189.
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Vicente-Garces C, Maynou-Fernández J, Fernandez-Isern G, Esperanza-Cebollada E, Torrebadell-Burriel M, Català-Temprano A, Rives-Solà S, Camós-Guijosa M and Vega-García N.
Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia
Frontiers in Molecular Biosciences . 10: 1141310-1141310. Number of citations: 1
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Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernandez-Isern G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L and Castellvi-Bel S.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome
JOURNAL OF MEDICAL GENETICS . 60(6): 557-567. Number of citations: 2
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Vera-Montecinos A, Galiano-Landeira J, Roldan-Molina M, Vidal-Domènech F, Claro E and Ramos B.
A Novel Localization of METTL7A in Bergmann Glial Cells in Human Cerebellum
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(9): . Number of citations: 2
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Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny T, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M and Sadikovic B.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
EPIGENOMICS . 15(6): 351-368. Number of citations: 1
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Rey-Barroso L, Roldan-Molina M, Burgos-Fernández FJ, Isola I, Ruiz-Llobet A, Gassiot S, Sarrate E and Vilaseca MA.
Membrane Protein Detection and Morphological Analysis of Red Blood Cells in Hereditary Spherocytosis by Confocal Laser Scanning Microscopy
Microscopy and Microanalysis . 29(2): 777-785. Number of citations: 1
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Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.
Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature
Movement Disorders Clinical Practice . 10(4): 547-557.
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Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
clinical case reports . 11(4): . Number of citations: 1
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Vila E, Pinacho R, Prades R, Tarragó T, Castro E, Munarriz-Cuezva E, Meana JJ, Eugui-Anta A, Roldan-Molina M, Vera-Montecinos A and Ramos B.
Inhibition of Prolyl Oligopeptidase Restores Prohibitin 2 Levels in Psychosis Models: Relationship to Cognitive Deficits in Schizophrenia
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): . Number of citations: 2