Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Julián Nevado Blanco"'
1
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
Autor: Natalia Gallego-Zazo, Alejandro Cruz-Utrilla, María Jesús del Cerro, Nuria Ochoa Parra, Julián Nevado Blanco, Pedro Arias, Pablo Lapunzina, Pilar Escribano-Subias, Jair Tenorio-Castaño
Publikováno v: Genes; Volume 13; Issue 5; Pages: 927
Pulmonary arterial hypertension (PAH) is a severe clinical condition characterized by an increase in mean pulmonary artery pressure, which leads to a right ventricular hypertrophy and potentially heart failure and death. In the last several years, ma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d5f6c967ab41b4d18d60f8f713c5a0
Zobrazit plný text záznamu
2
Description of Two New Cases of
Autor: Natalia, Gallego-Zazo, Alejandro, Cruz-Utrilla, María Jesús, Del Cerro, Nuria, Ochoa Parra, Julián Nevado, Blanco, Pedro, Arias, Pablo, Lapunzina, Pilar, Escribano-Subias, Jair, Tenorio-Castaño
Publikováno v: Genes. 13(5)
Pulmonary arterial hypertension (PAH) is a severe clinical condition characterized by an increase in mean pulmonary artery pressure, which leads to a right ventricular hypertrophy and potentially heart failure and death. In the last several years, ma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2a398f5edf87cff68eba68314c66968c
https://pubmed.ncbi.nlm.nih.gov/35627312
Zobrazit plný text záznamu
6
Síndrome de osteoporosis-pseudoglioma: a propósito de un caso pediátrico de osteoporosis primaria
Autor: Hamilton Cassinelli, Miriam Aza-Carmona, Pablo Daniel Lapunzina Badía, Paula Scaglia, Debora Braslavsky, Marina Szlago, Julián Nevado Blanco, Karen E. Heath, Olivia Ruiz, Claudia Arberas, Ignacio Bergadá, Alejandra Carmona, Nora Sanguineti, Maria del Carmen Fernandez, Rodolfo Rey
Publikováno v: Archivos Argentinos de Pediatria. 118
Osteoporosis should be considered in children with severe chronic diseases or in association with some genetic diseases that bear an increased risk of bone fragility. Primary osteoporosis is an entity in which emerging aetiologies are being recognize
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::489d17c795e19c0026587a5573c50ab2
https://doi.org/10.5546/aap.2020.e300
Zobrazit plný text záznamu
7
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis]
Autor: Débora, Braslavsky, Paula, Scaglia, Nora, Sanguineti, Miriam, Aza-Carmona, Julián, Nevado Blanco, Pablo D, Lapunzina Badia, María Del C, Fernández, Olivia, Ruiz, Alejandra, Carmona, Marina, Szlago, Claudia, Arberas, Hamilton, Cassinelli, Karen, Heath, Rodolfo, Rey, Ignacio, Bergadá
Publikováno v: Archivos argentinos de pediatria. 118(3)
Osteoporosis should be considered in children with severe chronic diseases or in association with some genetic diseases that bear an increased risk of bone fragility. Primary osteoporosis is an entity in which emerging aetiologies are being recognize
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dd0a56eb460c308da54f5a7980438a90
https://pubmed.ncbi.nlm.nih.gov/32470270
Zobrazit plný text záznamu
8
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays]
Autor: Francisco, Cammarata-Scalisi, Raquel, Blanco Lago, Pilar, Barruz Galián, Pablo, Lapunzina Badía, Dianora, Araque, Gloria, Da Silva, María A, Lacruz-Rengel, Andrea, Avendaño, Julián, Nevado Blanco
Publikováno v: Archivos argentinos de pediatria. 117(4)
Wolf-Hirschhorn syndrome is a polymalformative entity due to the microdeletion in the distal region of the short arm of chromosome 4 (4p16.3), which produces a series of clinical manifestations that can vary depending on the type and size of the gene
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f24853c9b2a55aa2218d5bb23cca756d
https://pubmed.ncbi.nlm.nih.gov/31339285
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje