E-LIB Suche - Ergebnisse für: Aróstegui, Juan I

1

Long-Term Visual Outcome of Patients with Blau Syndrome:

Kreps, Elke O ; Al Julandani, Dalila ; Guly, Catherine M...
https://discovery.ucl.ac.uk/id/eprint/10185633/4/Dick_Long-Term%20Visual%20Outcome%20of%20Patients%20with%20Blau%20Syndrome.pdf. , 2024

Link: https://discovery.ucl.ac..

2

G-CSF drives autoinflammation in APLAID:

Mulazzani, Elisabeth ; Kong, Klara ; Aróstegui, Juan I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154231/. , 2023

Link: http://www.ncbi.nlm.nih...

3

Evaluation and Management of Deficiency of Adenosine Deamin..:

Lee, Pui Y ; Davidson, Brad A ; Abraham, Roshini S...
https://discovery.ucl.ac.uk/id/eprint/10171299/3/Brogan_lee_2023_cs_230003_1684514579.32894.pdf. , 2023

Link: https://discovery.ucl.ac..

4

Evaluation and Management of Deficiency of Adenosine Deamin..:

Lee, Pui Y ; Davidson, Brad A ; Abraham, Roshini S...
10.1001/jamanetworkopen.2023.15894. , 2023

Link: http://hdl.handle.net/10..

5

Clinical and genetic features of hereditary periodic fever ..:

Vergara, Cristian ; Borzutzky, Arturo ; Gutierrez, Miguel A...
instname: Conicyt. , 2022

Link: https://hdl.handle.net/1..

6

Excess Serum Interleukin-18 Distinguishes Patients with Pat..:

Stone, Deborah L ; Ombrello, Amanda ; Arostegui, Juan I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855702/. , 2022

Link: http://www.ncbi.nlm.nih...

7

Characterization of Novel Pathogenic Variants Leading to Ca..:

Tapiz i Reula, Alfonso José ; Cochino, Alexis-Virgil ; Martins, Andreia L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674708/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Phenotype and clinical outcomes of Glu89Lys hereditary tran..:

de Frutos, Fernando ; Ochoa, Juan Pablo ; Gómez-González, Cristina...
10.1080/13506129.2022.2142110. , 2022

Link: https://hdl.handle.net/2..

9

Correction to: Characterization of Novel Pathogenic Variant..:

Reula, Alfonso José Tapiz i ; Cochino, Alexis-Virgil ; Martins, Andreia L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674752/. , 2022

Link: http://www.ncbi.nlm.nih...

10

Somatic genetic variation in healthy tissue and non-cancer ..:

Solís-Moruno, Manuel ; Batlle-Masó, Laura ; Bonet, Núria..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9823099/. , 2022

Link: http://www.ncbi.nlm.nih...

11

Assessment of the gene mosaicism burden in blood and its im..:

Solís-Moruno, Manuel ; Mensa-Vilaró, Anna ; Batlle-Masó, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217568/. , 2021

Link: http://www.ncbi.nlm.nih...

12

Publisher Correction: Assessment of the gene mosaicism burd..:

Solís-Moruno, Manuel ; Mensa-Vilaró, Anna ; Batlle-Masó, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371119/. , 2021

Link: http://www.ncbi.nlm.nih...

13

Severe Autoinflammatory Manifestations and Antibody Deficie..:

Martín-Nalda, Andrea ; Fortuny, Claudia ; Rey, Lourdes...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7505877/. , 2020

Link: http://www.ncbi.nlm.nih...

14

Deficiency of adenosine deaminase 2 (DADA2) in Adults and C..:

Sharma, Aman ; Naidu, GSRSNK ; Sharma, Vikas...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902299/. , 2020

Link: http://www.ncbi.nlm.nih...

15

MCC950 closes the active conformation of NLRP3 to an inacti..:

Tapia-Abellán, Ana ; Angosto-Bazarra, Diego ; Martínez-Banaclocha, Helios...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116292/. , 2019

Link: http://www.ncbi.nlm.nih...