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Nevado Blanco, Julián
162  results:
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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...
 
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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/..
 
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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/..
 
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