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Nevado Blanco, Julián
162
results:
Search for persons
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Format
Online (162)
Mediatypes
Articles (Online) (126)
OpenAccess-fulltext (36)
Languages
english (139)
spanish (2)
Sorted by: Relevance
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1
New human combined immunodeficiency caused by interferon re..:
Bravo García-Morato, María
;
Aracil Santos, Francisco Javier
;
Briones, Alejandro Contreras
...
Journal of Allergy and Clinical Immunology. 141 (2018) 5 - p. 1924-1927.e18 , 2018
Link:
https://doi.org/10.1016/..
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2
Genetics of inborn errors of immunity: Diagnostic strategie..:
Pérez, Elisabet Matas
;
Torbay, Andrea González
;
López, Mario Solis
...
European Journal of Clinical Investigation. 54 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1111/..
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3
Spontaneous remission in a child with an NPHS1-based congen..:
Espinosa, Laura García
;
Santoveña, Alejandro Zarauza
;
Blanco, Julián Nevado
...
Clinical Kidney Journal. 15 (2022) 10 - p. 1969-1970 , 2022
Link:
https://doi.org/10.1093/..
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4
Description of Two New Cases of AQP1 Related Pulmonary Arte..:
Gallego-Zazo, Natalia
;
Cruz-Utrilla, Alejandro
;
del Cerro, María Jesús
...
Genes. 13 (2022) 5 - p. 927 , 2022
Link:
https://doi.org/10.3390/..
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5
Guía para la valoración de la discapacidad en enfermedades ..:
Valverde, Israel
;
Montes Domínguez, Ana María
;
Olmo Vega, José Antonio
...
https://juntadeandalucia.es/servicios/publicaciones/detalle/80473.html. , 2021
Link:
http://hdl.handle.net/10..
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6
New microdeletion and microduplication syndromes : a compre..:
Nevado Blanco, Julián
;
Mergener, Rafaella
;
Palomares-Bralo, María
...
Genetics and molecular biology. Ribeirão Preto, SP. Vol. 37, no. 1, suppl. 1 (2014), p. 210-219.. , 2014
Link:
http://hdl.handle.net/10..
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7
Síndrome de osteoporosis-pseudoglioma: A propósito de un ca..:
Braslavsky, Débora
;
Scaglia, Paula Alejandra
;
Sanguineti, Nora María
...
info:eu-repo/semantics/altIdentifier/doi/10.5546/aap.2020.e300. ,
Link:
http://hdl.handle.net/11..
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8
A Homozygous Mutation in the Highly Conserved Tyr60 of the ..:
Keselman, Ana Claudia
;
Martin, Ayelen
;
Scaglia, Paula Alejandra
...
info:eu-repo/semantics/altIdentifier/url/https://eje.bioscientifica.com/view/journals/eje/aop/eje-19-0563.xml. ,
Link:
http://hdl.handle.net/11..
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9
A Spanish Family with Gordon Syndrome Due to a Variant in t..:
Peces, Ramón
;
Peces, Carlos
;
Espinosa, Laura
...
Genes. 14 (2023) 10 - p. 1878 , 2023
Link:
https://doi.org/10.3390/..
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10
Spontaneous remission in a child with an NPHS1-based congen..:
Espinosa, Laura García
;
Santoveña, Alejandro Zarauza
;
Blanco, Julián Nevado
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9494519/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
11
Description of Two New Cases of AQP1 Related Pulmonary Arte..:
Natalia Gallego-Zazo
;
Alejandro Cruz-Utrilla
;
María Jesús del Cerro
...
Human Genomics and Genetic Diseases. , 2022
Link:
https://doi.org/10.3390/..
?
12
Description of Two New Cases of AQP1 Related Pulmonary Arte..:
Natalia Gallego-Zazo
;
Alejandro Cruz-Utrilla
;
María Jesús del Cerro
...
https://www.mdpi.com/2073-4425/13/5/927. , 2022
Link:
https://doi.org/10.3390/..
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13
Coping with Wolf-Hirschhorn syndrome: quality of life and p..:
Berrocoso, Sarah
;
Amayra, Imanol
;
Lázaro, Esther
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
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14
Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-P..:
Limeres, Jacobo
;
Serrano, Candela
;
De Nova, Joaquin Manuel
...
Journal of Clinical Medicine. 9 (2020) 11 - p. 3556 , 2020
Link:
https://doi.org/10.3390/..
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15
International meeting on Wolf‐Hirschhorn syndrome: Update o..:
Nevado, Julián
;
Ho, Karen S.
;
Zollino, Marcella
...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 257-267 , 2019
Link:
https://doi.org/10.1002/..
1-15