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PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source

AZ EGÉSZSÉG-GAZDASÁGTAN AVATOTT MŰVELŐJE

Köz-gazdaság, 2020
2012. október 1.-én Werner Brouwer, a Rotterdami Erasmus Egyetem egészséggazdaságtan professzora a Budapesti Corvinus Egyetemen, Trautmann László dékán úrtól átvette címzetes egyetemi tanári kinevezését, majd Job van Exel és Gulácsi László laudatioját ...
FANNI RENCZ
doaj

"Análisis jurídico tributario de la sociedad cooperativa" (Recensión)

Revista de Fomento Social, 2005
Recensión de la obra de: MONTERO SIMÓ, M., (2005), Análisis jurídico tributario de la sociedad cooperativa, Bilbao, Ed. Desclée De Brouwer, 362 páginas.
Manuel Paniagua Zurera
doaj +1 more source

Neumann problems of superlinear elliptic systems at resonance

Electronic Journal of Qualitative Theory of Differential Equations, 2022
We prove existence of weak solutions of Neumann problem of nonhomogeneous elliptic system with asymmetric nonlinearities that may resonant at $-\infty$ and superlinear at $+\infty$.
Ruyun Ma, Zhongzi Zhao, Mantang Ma
doaj +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

Arthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez +295 more
wiley +1 more source

Philosophical Foundations of Intuitionistic Logic [PDF]

Metaphysics, 2013
Intuitionistic logic, as a non-classical logic, encompasses the principles of logical reasoning which were used by L. E. J. Brouwer in developing his intuitionistic mathematics.
L Nabavi, MA Hojati, H Alaeenezhad
doaj +1 more source

Brouwerian Intuitionism and Husserlian Phenomenology

Philosophia Scientiæ
How far can we go to establish a parallel between Brouwer’s intuitionism and Husserl’s transcendental phenomenology, especially when the latter deals with logic and mathematics? Positions on this question are diverse and sometimes quite divergent.
Dominique Pradelle
doaj +1 more source

Dutch role in hostage crisis

Pacific Journalism Review, 2000
Dutch Amabassador, Paul Brouwer, tells in the Dutch radio programme Argos (5 November 1999) about the good cooperation between the Indonesians, Britsh and Dutch.
Paul Brouwer
doaj +1 more source

Autoreactivity vs autoimmunity: characteristics of autoantigen‐specific CD4 T‐cells in rheumatoid arthritis and health.

Arthritis &Rheumatology, Accepted Article.
Background CD4 T cells specific for citrullinated (cit)‐peptides are key players in RA immunopathogenesis. Characterising these cells and identifying features of healthy and RA‐associated autoreactivity will provide valuable insight into disease mechanisms and form the basis of immune state biomarkers to facilitate the next generation of RA treatments.
James A. Stanway +13 more
wiley +1 more source

Judith Brouwer, Levenstekens. Gekaapte brieven uit het Rampjaar 1672

BMGN: Low Countries Historical Review, 2015
Judith Brouwer, Levenstekens. Gekaapte brieven uit het Rampjaar 1672 (Dissertatie Rijksuniversiteit Groningen 2013; Hilversum: Verloren, 2014, 352 pp., isbn 978 90 8704 405 3).
Suze Zijlstra
doaj +1 more source

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