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Browsing Otras Áreas de Investigación de Salud y Ciencias Biomédicas by UNESCO Thesaurus "Genética humana"
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Browsing Otras Áreas de Investigación de Salud y Ciencias Biomédicas by UNESCO Thesaurus "Genética humana"
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Now showing items 1-20 of 30
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A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation
López Martín, Sara;
Albert, Jacobo;
Peña Vila-Belda, María del Mar
[et al.]
(
2022
)
article
A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy
Rodríguez, Cristina;
Sánchez Morán, Irene;
Álvarez de Andrés, Sara
[et al.]
(
2019
)
article
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations
Jiménez de la Peña, Mar;
Fernández Mayoralas, Daniel Martín;
López Martín, Sara
[et al.]
(
2021
)
article
Altered white matter microstructure in 22q11.2 deletion syndrome: A multisite diffusion tensor imaging study
Villalón Reina, Julio;
Martínez, Kenia;
Xiaoping, Qu
[et al.]
(
2020
)
article
ANO3 and early-onset dyskinetic encephalopathy
Jiménez de Domingo, Ana;
López Martín, Sara;
Albert, Jacobo
[et al.]
(
2020
)
article
Assessing coagulopathy and endothelial dysfunction in pediatric venous malformation: A thromboelastometry and syndecan-1 study
Nava y Hurtado, Francisco;
Monzón Manzano, Elena;
Viana-Huete, Vanesa
[et al.]
(
2024
)
article
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review
Fernández Mayoralas, Daniel Martín;
Albert, Jacobo;
López Martín, Sara
[et al.]
(
2021
)
article
Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability
Tran, Viviane;
Goyette, Marie-Anne;
Martínez García, Mónica
[et al.]
(
2022
)
article
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
Young, Natalie;
Asif, Maria;
Jackson, Matthew
[et al.]
(
2021
)
article
Capillary electrophoresis with laser-induced fluorescence detection of proteins from two types of complex sample matrices: Food and biological fluids
Garrido-Medina, Raúl;
Puerta, Ángel;
Peláez Lorenzo, Cristina
[et al.]
(
2013
)
article
Chronic Consumption of Cocoa Rich in Procyanidins Has a Marginal Impact on Gut Microbiota and on Serum and Fecal Metabolomes in Male Endurance Athletes
Tabone, Mariangela;
García Merino, José Ángel;
Bressa, Carlo
[et al.]
(
2022
)
article
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
Accogli, Andrea;
Wiegand, Gert;
Scala, Marcello
[et al.]
(
2021
)
article
Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
Marín Díez, José Fernando;
Jódar Gimeno, José Esteban;
Sánchez del Pozo, Jaime
(
2021
)
article
Correlaciones entre los genotipos del gen APOE y la composición de la microbiota intestinal en población española. Estudio piloto
Tabone, Mariangela;
Montalvo Lominchar, María Gregoria;
Bailén Andrino, María
[et al.]
(
2019
)
conferenceObject
Dietary Behavior of Spanish Schoolchildren in Relation to the Polygenic Risk of Obesity
Calderón García, Andrea;
Pedrero Tomé, Roberto;
Alaminos Torres, Ana
[et al.]
(
2023
)
article
Epigenetic Regulation of Gfi1 in Endocrine-Related Cancers: A Role Regulating Tumor Growth
Ashour, Nadia;
Angulo Cuesta, Javier;
González-Corpas, Ana
[et al.]
(
2020
)
article
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Lewis, Hannah;
Samanta, Debopam;
Örsell, Jenny-Li
[et al.]
(
2020
)
article
Miliary Tuberculosis Presenting with Hyponatremia and ARDS in an 82-Year-Old Immunocompetent Female
Herreros Ruiz Valdepeñas, Benjamín;
Plaza, Isabel;
García, Rebeca
[et al.]
(
2018
)
article
Mutación de novo en DYNC1H1, atrofia muscular espinal y problemas atencionales
Fernández Perrone, Ana Laura;
Moreno Fernández, P.;
Álvarez de Andrés, Sara
[et al.]
(
2022
)
article
Obesidad: un problema no tan simple
López Mojares, Luis Miguel
(
2015
)
article
Now showing items 1-20 of 30
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