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SciProfiles: 2969145

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Works (6)

Comprehensive Screening of Genetic Variants in the Coding Region of <i>F8</i> in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort

Life
2024-08 | Journal article | Author
DOI: 10.3390/life14081041
Contributors: Samuel Sarmiento Doncel; Ronald Guillermo Peláez Sánchez; Pablo Lapunzina; Fernando Corrales-Medina; Gina Alejandra Diaz Mosquera; Santiago Bonanad; Javier Mauricio Cortes; Mario Cazalla Garcia; Natalia Gallego ; Felipe Querol-Giner et al.
Source: check_circle
Multidisciplinary Digital Publishing Institute

Mortality in Patients with 22q11.2 Rearrangements

Genes
2024-08 | Journal article | Author
DOI: 10.3390/genes15091146
Contributors: Melisa Cilio Arroyuelo; Jair Antonio Tenorio; Luis Fernandez; Alejandro Parra; Mario Cazalla Garcia; Natalia Gallego ; Lucía Miranda-Alcaraz; María Ángeles Mori; Luis García-Gueretta; Carlos Labrandero de Lera et al.
Source: check_circle
Multidisciplinary Digital Publishing Institute

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by <i>SOX5</i> haploinsufficiency

Clinical Genetics
2023-09-13 | Journal article
DOI: 10.1111/cge.14423
Part of ISSN: 0009-9163
Part of ISSN: 1399-0004
Contributors: Jair Tenorio‐Castano; Ángela Sánchez‐Algaba Gómez; Mónica Coronado; Pilar Rodríguez‐Martín; Alejandro Parra; Patricia Pascual; Mario Cazalla; Natalia Gallego; Pedro Arias; Aixa V. Morales et al.
Source: Self-asserted source
Mario Cazalla Garcia

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

Genes
2023-08-23 | Journal article
DOI: 10.3390/genes14091664
Part of ISSN: 2073-4425
Contributors: Patricia Pascual; Jair Antonio Tenorio; Cyril Mignot; Alexandra Afenjar; Pedro Arias; Natalia Gallego ; Alejandro Parra; Lucia Miranda; Mario Cazalla; Cristina Silván et al.
Source: Self-asserted source
Mario Cazalla Garcia

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Genes
2023-05-29 | Journal article
DOI: 10.3390/genes14061179
Part of ISSN: 2073-4425
Contributors: Alejandro Parra; Rachel Rabin; John Pappas; Patricia Pascual; Mario Cazalla; Pedro Arias; Natalia Gallego ; Alfredo Santana Rodríguez; Ignacio Arroyo; Mercè Artigas et al.
Source: Self-asserted source
Mario Cazalla Garcia

What about cardiovascular toxicities of immune checkpoint inhibitors?

European journal of hospital pharmacy : science and practice
2020-04-23 | Journal article
DOI: 10.1136/ejhpharm-2020-002277
PMID: 33355277
PMC: PMC7788214
Contributors: Raquel Moreno; Cazalla Garcia M; Bautista Sanz MP; Gonzalez Davia R; Rosero Rodriguez AC
Source: Self-asserted source
Mario Cazalla Garcia
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