New variants expand the neurological phenotype of COQ7 deficiency.

Autor: Fabra, María Alcázar, Paredes‐Fuentes, Abraham J., Torralba Carnerero, Manuel, Moreno Férnandez de Ayala, Daniel J., Arroyo Luque, Antonio, Sánchez Cuesta, Ana, Staiano, Carmine, Sanchez‐Pintos, Paula, Luz Couce, María, Tomás, Miguel, Marco‐Hernández, Ana Victoria, Orellana, Carmen, Martínez, Francisco, Roselló, Mónica, Caro, Alfonso, Oltra Soler, Juan Silvestre, Monfort, Sandra, Sánchez, Alejandro, Rausell, Dolores, Vitoria, Isidro

Publikováno v: Journal of Inherited Metabolic Disease; Sep2024, Vol. 47 Issue 5, p1047-1068, 22p

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

Autor: Silvestre Oltra, Carolina Fuentes, Marián Lázaro, Barbara Torres, Yania Yáñez, Teresa Tormo, Vanessa Segura, Victoria Castel, Sandra Dolz, Jaime Font de Mora, María Tasso, José María Fernández, Julia Balaguer, Inés Calabria, Mara Andrés, Pablo Gargallo, Adela Cañete, Antonio Juan-Ribelles

Publikováno v: Cancers
Volume 13
Issue 21
Gargallo, Pablo Oltra Soler, Juan Silvestre Yáñez Peralta, Yania Juan Ribelles, Antonio Calabria, Inés Segura, Vanessa Lázaro, Marián Balaguer Guill, Julia Tormo, Teresa Dolz, Sandra Fernández, José María Fuentes, Carolina Torres, Bárbara Andrés, Mara Tasso, María Castel Sánchez, Victoria Font de Mora Saínz, Jaime Cañete Nieto, Adela 2021 Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care Cancers 13 21 5339
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Cancers, Vol 13, Iss 5339, p 5339 (2021)

Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad01de8d7b88f79e7c6da693a6c217b

Prevalence of pathogenic copy number variants among children conceived by donor oocyte

Autor: Silvestre Oltra, Carmen Orellana, Mónica Roselló, Alfonso Caro-Llopis, Francisco Martínez, Sandra Monfort

Publikováno v: SCIENTIFIC REPORTS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Monfort Membrado, Sandra Orellana Alonso, Carmen Oltra Soler, Juan Silvestre Roselló Piera, Mónica Pilar Caro-Llopis, Alfonso Martínez Castellano, Francisco 2021 Prevalence of pathogenic copy number variants among children conceived by donor oocyte Scientific Reports 11 6752
Scientific Reports
RODERIC. Repositorio Institucional de la Universitat de Valéncia

Development of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590b76e05765b1c02a8e7f3c6a869734
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14095