Results 31 to 40 of about 839 (154)
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1261-1272, May 2023., 2023 Abstract You‐Hoover‐Fong syndrome (YHFS) is an autosomal recessive condition caused by pathogenic variants in the TELO2 gene. Affected individuals were reported to have global developmental delay, intellectual disability, microcephaly, dysmorphic facial features, ocular involvement including cortical visual impairment, strabismus, cataract and rotatory
Daniah Albokhari +12 more
wiley +1 more source
Von der Bundesstelle für die Positivprädikatisierung von digitalen Spielen (BuPP) empfohlen. [PDF]
, 2022 Im Folgenden werden drei digitale Spiele vorgestellt, die von der „BuPP – Bundesstelle für die Positivprädikatisierung von digitalen Spielen“ empfohlen wurden. Die BuPP ist eine Einrichtung des Bundeskanzleramts, Sektion Familie und Jugend.
Kaiser-Fallent, Karina
core
Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care
Children, 2022 We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized ...
Linda S. Franck +7 more
doaj +1 more source
Medienimpulse, 2010 Ein Spiel zum Zeichnen und Malen (lernen). Verlag: Nintendo Genre: Edu- und Infotainment Altersempfehlung: Kids (10-13 Jahre) / Jugendliche (14+ Jahre) Plattform ...
Herbert Rosenstingl
doaj +1 more source
A novel murine in vivo model for acute hereditary angioedema attacks
Scientific Reports, 2021 Hereditary Angioedema (HAE) is a rare genetic disease generally caused by deficiency or mutations in the C1-inhibitor gene, SERPING1, a member of the Serpin family. HAE results in acute attacks of edema, vasodilation, GI pain and hypotension.
Sujata Bupp +6 more
doaj +1 more source
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease
eLife, 2021 Background: Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities.
Surender Rajasekaran +11 more
doaj +1 more source
Medienimpulse, 2010 Ein Quizspiel zum Thema Natur Verlag: F+F Distribution GmbH Genre: Fun - oder Gesellschaftsspiele Altersempfehlung: Kids (10-13 Jahre) / Jugendliche (14+ Jahre) / Familie Plattform: PC / PS3 / Wii ...
Herbert Rosenstingl
doaj +1 more source
Development And Characterization Of Microsatellite Loci For The Endangered Scrub Lupine, Lupinus Aridorum (Fabaceae) [PDF]
, 2015 Scrub lupine ( Lupinus aridorum McFarlin ex Beckner) is an endangered plant restricted to the Winter Haven and Mount Dora ridge systems in central Florida that has declined primarily due to habitat loss ( USFWS, 1987 ).
Pruett, Christin L. +5 more
core +2 more sources
Computerspielrezension: Woran erkennt man eine gelungene Kinderspiel-App?
Medienimpulse, 2020 Kurz gesagt: Eine gelungene Spiele-App macht der Alterszielgruppe Spaß, ist aus pädagogischer Sicht unbedenklich und bietet Förderpotential.
Karina Kaiser-Fallent
doaj +1 more source
Frontiers in Immunology, 2021 In the age of genomics, public understanding of complex scientific knowledge is critical. To combat reductionistic views, it is necessary to generate and organize educational material and data that keep pace with advances in genomics.
Jacob Bauss +27 more
doaj +1 more source