Suchergebnisse - "Jimenez Heredia, Raul"

PubPharm (32)

1

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

enthalten in: Nature communications | 2024

von Werren, E. | LaForce, G. | Srivastava, A. | +27

UpdateOf: Res Sq. 2023 Sep 06;:. - PMID 37720017

2

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

enthalten in: HemaSphere | 2024

von Kager, L. | Jimenez-Heredia, R. | Zeitlhofer, P. | +10

3

A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes

enthalten in: HemaSphere | 2024

von Kager, L. | Jimenez‐Heredia, R. | Zeitlhofer, P. | +10

4

Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3

enthalten in: British journal of haematology | 2023

von Novak, W. | Berner, J. | Svaton, M. | +13

5

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

enthalten in: The Journal of allergy and clinical immunology | 2023

von Berner, J. | van de Wetering, C. | Jimenez Heredia, R. | +10

6

Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia : A Case Report

enthalten in: Endocrine, metabolic & immune disorders drug targets | 2023

von Zamani, R. | Zoghi, S. | Shahkarami, S. | +4

7

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

enthalten in: Research square | 2023

von Werren, E. | LaForce, G. | Srivastava, A. | +26

UpdateIn: Nat Commun. 2024 Feb 22;15(1):1640. - PMID 38388531

8

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

enthalten in: Blood | 2023

von Kostel Bal, S. | Giuliani, S. | Block, J. | +32

9

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

enthalten in: The New England journal of medicine | 2023

von Block, J. | Rashkova, C. | Castanon, I. | +56

10

Severe congenital neutropenia due to G6PC3 deficiency : early and delayed phenotype of a patient

enthalten in: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology | 2023

von Moradian, N. | Zoghi, S. | Rayzan, E. | +4