Results 31 to 40 of about 550 (102)

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature

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, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp, Dorothy K. Grange, Geoffroy Delplancq, Jennifer Heeley, Melissa Zuteck, Michelle M. Morrow, Paul Kuentz, Timothy Blake Palculict, Julie E. Hoover‐Fong   +12 more
wiley   +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, Matthew Whittaker, Mari Lehtimaki, JuMe Park, Jessica Dement-Brown, Zhao-Hua Zhou, Steven Kozlowski   +6 more
doaj   +1 more source

Art Academy

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

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, Caleb P Bupp, Mara Leimanis-Laurens, Ankit Shukla, Christopher Russell, Joseph Junewick, Emily Gleason, Elizabeth A VanSickle, Yvonne Edgerly, Bryan M Wittmann, Jeremy W Prokop, André S Bachmann   +11 more
doaj   +1 more source

Nat Geo Quiz! Wild Life

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

CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications

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, Michele Morris, Rama Shankar, Rosemary Olivero, Rosemary Olivero, Leah N. Buck, Leah N. Buck, Cynthia L. Stenger, David Hinds, David Hinds, Joshua Mills, Alexandra Eby, Joseph W. Zagorski, Caitlin Smith, Sara Cline, Nicholas L. Hartog, Nicholas L. Hartog, Bin Chen, Bin Chen, John Huss, Joseph A. Carcillo, Surender Rajasekaran, Surender Rajasekaran, Surender Rajasekaran, Caleb P. Bupp, Caleb P. Bupp, Jeremy W. Prokop, Jeremy W. Prokop   +27 more
doaj   +1 more source

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

The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing

Frontiers in Cell and Developmental Biology, 2022
The small GTPase family is well-studied in cancer and cellular physiology. With 162 annotated human genes, the family has a broad expression throughout cells of the body. Members of the family have multiple exons that require splicing.
Akansha S. Das, Akansha S. Das, Emily C. Sherry, Emily C. Sherry, Robert M. Vaughan, Marian L. Henderson, Marian L. Henderson, Jacob Zieba, Jacob Zieba, Katie L. Uhl, Olivia Koehn, Caleb P. Bupp, Caleb P. Bupp, Surender Rajasekaran, Surender Rajasekaran, Surender Rajasekaran, Xiaopeng Li, Surya B. Chhetri, Sahar Nissim, Sahar Nissim, Sahar Nissim, Carol L. Williams, Jeremy W. Prokop, Jeremy W. Prokop, Jeremy W. Prokop   +24 more
doaj   +1 more source

Musik in digitalen Spielen – zwei Spiele mit (Mehr)Wert

Medienimpulse, 2019
Die beiden digitalen Spiele Wandersong und Songbird Symphony bieten die Möglichkeit, sich auf musikalische Weise mit gesellschaftlichen Themen wie „gewaltfreie Konfliktlösung“ und „Mobbing/Anders sein“ auseinanderzusetzen.
Karina Kaiser-Fallent
doaj   +1 more source

Die Lust am Bauen – digital umgesetzt – pädagogisch genützt

Medienimpulse, 2019
Die Lust am Konstruieren wird uns gewissermaßen in die Wiege gelegt, denn schon Babys haben Freude daran, Dinge zu stapeln, aneinander zu reihen, zu kombinieren und damit Neues zu schaffen.
Karina Kaiser-Fallent
doaj   +1 more source