Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Juan L. García-Hernández"'
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Akademický článek
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
Autor: Juan L. García-Hernández, Luis A. Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons, Pedro A. Lazo
Publikováno v: Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)
Abstract Background Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. Methods To i
Externí odkaz: https://doaj.org/article/1e7d521c22ca40d9b075d128f52b3343
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2
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
Autor: Luis A. Corchete, Pedro A. Lazo, Iñigo Marcos-Alcalde, Juan L. García-Hernández, Carmen Fons, Paulino Gómez-Puertas
Publikováno v: Human Genomics
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
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Digital.CSIC. Repositorio Institucional del CSIC
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)
© The Author(s).
[Background]: Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824a12566ad5fb8a5b50caf119aa899a
http://europepmc.org/articles/PMC7871650
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4
Deficient spindle assembly checkpoint in multiple myeloma
Autor: Juan L. García-Hernández, Ricardo López-Pérez, Stela Álvarez-Fernández, Xi Chen, Atanasio Pandiella, Jesús F. San Miguel, Bruno Paiva, Elena Díaz-Rodríguez
Publikováno v: PLoS ONE, Vol 6, Iss 11, p e27583 (2011)
Digital.CSIC. Repositorio Institucional del CSIC
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PLoS ONE
Multiple myeloma (MM) is a hematological disease characterized by an abnormal accumulation of plasma cells in the bone marrow. These cells have frequent cytogenetic abnormalities including translocations of the immunoglobulin heavy chain gene and chr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::484d51e6ace222b1f16970e10630687c
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22132115/?tool=EBI
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5
Akademický článek
Homenaje a la Madre del Practicante", un fiesta histórica original y genuina de los Auxiliares Sanitarios de Alicante (1959-1970).
Autor: Ávila Olivares, José Antonio1 (NURSE) ja.avila@wanadoo.es
Publikováno v: Cultura de los Cuidados. 2015, Vol. 19 Issue 41, p44-55. 12p. 4 Color Photographs, 7 Black and White Photographs.
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