Results 11 to 20 of about 938 (157)
Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome [PDF]
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu +7 more
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Correction to “Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome” [PDF]
Mol Genet Genomic MedMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review [PDF]
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
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Knee Joint Loading During Supported Standing in Children and Adolescents with Severe Cerebral Palsy: Effects of Verticalization and Joint Position [PDF]
ChildrenBackground: Supported standing is widely used in children and adolescents with severe cerebral palsy (CP) as part of rehabilitation programs aimed at maintaining musculoskeletal health and enabling participation.
René Althaus, Eva M. Steindl
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Reflections on the Present State of Economics
PSL Quarterly Review, 2012 In the context of the special issue on Joseph Steindl, we offer here a republication of Steindl’s contribution to the series “Recollections of Eminent Economics”, originally published in vol. 37 n.
Josef Steindl
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Mitteilungen der Vereinigung Österreichischer Bibliothekarinnen und Bibliothekare, 2019 Anlässlich des 100. Geburtstages des am 15. November 2010 verstorbenen Ökonomen Kurt W. Rothschild wurden am 21. Oktober 2014 die beiden Sondersammlungen Kurt W. Rothschild und Josef Steindl im Rahmen eines feierlichen Festaktes eröffnet.
Katharina Müllebner
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The early years of Leopoldo Cicognara’s book collection [PDF]
Journal of Art Historiography, 2022 Based on a newly discovered inventory, the article examines the early years of Francesco Leopoldo Cicognara’s book collection. Begun in 1798 as a suitable activity for a diplomat and as a cover for subversive contacts in Masonic circles, the collecting ...
Barbara Steindl
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Moneta e Credito, 2013 Il documento è un contributo ad una serie di ricordi e riflessioni sulle esperienze professionali di illustri economisti con Banca Nazionale del Lavoro Quarterly Review iniziatinel 1979. In esso Josef Steindl ricorda le importanti avventi in materia di
J. STEINDL
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Effective Demand in the Short and in the Long Run
PSL Quarterly Review, 2012 In the context of the special issue on Joseph Steindl we publish an original manuscript by the same author, containing a paper he presented at the 1990 edition of the “International Summer School for Advanced Economic Studies” (the Trieste School).
Josef Steindl
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La domanda effettiva nel breve e nel lungo periodo.(Effective Demand in the Short and the Long Run)
Moneta e Credito, 2013 L'articolo è una traduzione di un manoscritto originale di Josef Steindl, contenente un documento che ha presentato all'edizione 1990 della "Scuola estiva internazionale per studi economici avanzati" (la Scuola di Trieste).
Josef Steindl
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