Výsledky vyhledávání - "Beatriz del Olmo"

A Neurodevelopmental Disorder with Intellectual Disability and Autism due to MAP7D3 Haploinsufficiency

Autor: Enrique Nogueira, Beatriz del Olmo, Concepcion Lobo, Genesis Vizuete, Carmen Garma

Publikováno v: Journal of Biomedical Research & Environmental Sciences. 3:1012-1015

We report on a young boy with a neurodevelopmental disorder who is a carrier of a novel frameshift mutation in gene MAP7D3 (MAP7 domain containing 3) of Xq26.3. The protein encoded by this gene belongs to the MAP7 (microtubuleassociated protein 7) fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ebb4772e45cd9c63fce7d3405274bf0b
https://doi.org/10.37871/jbres1546

Zobrazit plný text záznamu

CLO22-073: Familial Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Associated to Novel PTCH1 Mutation c.1067 + 2T>C of Paternal Origin in Somatic Mosaicism With Marked Phenotypic Variation in the Children

Autor: Enrique Nogueira, Concepción Lobo, Carmen Garma, Génesis Vizuete, Beatriz del Olmo

Publikováno v: Journal of the National Comprehensive Cancer Network. 20:CLO22-073

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f2417678b2a96492236c5aba3e68ffa4
https://doi.org/10.6004/jnccn.2021.7319

Zobrazit plný text záznamu

Autor: Enrique Nogueira, Carmen Garma, Concepción Lobo, Beatriz del Olmo, Génesis Vizuete

Publikováno v: Neurological Sciences. 43:2127-2131

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::226960409fc3f2f21ea6efa87fb08af2
https://doi.org/10.1007/s10072-022-05884-5

Zobrazit plný text záznamu

Plný text ve formátu HTML

Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome

Autor: Iván Gómez, Beatriz Del Olmo, José Manuel Arroyo, Concepción Lobo, Carmen Garma, Enrique Nogueira

Publikováno v: Neurological Sciences. 42:4349-4352

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdc6f0755f81b83043bff99c59c89d90
https://doi.org/10.1007/s10072-021-05423-8

Zobrazit plný text záznamu

Screening for occult malignancy with FDG-PET/CT in patients with unprovoked venous thromboembolism

Autor: Beatriz Del Olmo, Pablo Rodríguez-Wilhelmi, Ramón Lecumberri, Ana Alfonso, José A. Páramo, Tomás Rubio, Margarita Redondo, José A. Richter, María José García-Velloso

Publikováno v: International Journal of Cancer. 133:2157-2164

Extensive screening strategies to detect occult cancer in patients with unprovoked venous thromboembolism (VTE) are complex and no benefit in terms of survival has been reported. FDG-PET/CT (2-[F-18] fluoro-2-deoxy-D-glucose positron emission tomogra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc6d840bbd8d22796033eac7952c6e52
https://doi.org/10.1002/ijc.28229

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání