Results 41 to 50 of about 3,850 (167)

TFIIIC Localizes Budding Yeast ETC Sites to the Nuclear Periphery [PDF]

open access: yes, 2012
Peer reviewedPublisher ...
Botsios, Sotirios   +3 more
core   +2 more sources

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

open access: yesAnnals of Neurology, Volume 92, Issue 6, Page 958-973, December 2022., 2022
Objective Rare inherited missense variants in SLC32A1, the gene that encodes the vesicular gamma‐aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo missense variants in SLC32A1 can also cause epilepsy with impaired neurodevelopment.
Konrad Platzer   +12 more
wiley   +1 more source

A novel murine in vivo model for acute hereditary angioedema attacks

open access: yesScientific 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

Triangulations and a discrete Brunn-Minkowski inequality in the plane [PDF]

open access: yes, 2018
For a set $A$ of points in the plane, not all collinear, we denote by ${\rm tr}(A)$ the number of triangles in any triangulation of $A$; that is, ${\rm tr}(A) = 2i+b-2$ where $b$ and $i$ are the numbers of points of $A$ in the boundary and the interior ...
Böröczky, Károly J.   +4 more
core   +2 more sources

Variations in immune parameters with age in a wild rodent population and links with survival

open access: yesEcology and Evolution, Volume 12, Issue 7, July 2022., 2022
Recent findings suggest that immune functions do not unidirectionally deteriorate with age but that a potentially adaptive remodeling. Scarce in wild populations, longitudinal studies are yet necessary to properly understand the patterns and consequences of age variations of the immune system in the wild.
Coraline Bichet   +3 more
wiley   +1 more source

Art Academy

open access: yesMedienimpulse, 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

open access: yeseLife, 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

How long can fisheries management delay action in response to ecosystem and climate change? [PDF]

open access: yes, 2012
Sustainable management of fisheries is often compromised by management delaying implementation of regulations that reduce harvest, in order to maintain higher catches in the short term.
Brown, Christopher J.   +3 more
core   +1 more source

Nat Geo Quiz! Wild Life

open access: yesMedienimpulse, 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

Sonar research conducted during the period 1 January - 31 March 1961 [PDF]

open access: yes, 1961
This is a report of activities supported under Contract NObsr-72521 for the period 1 January through 31 March 1961. It also contains mention of other reports, papers, and undertakings of the submarine geophysics group (listed under "Personnel") which ...
Woods Hole Oceanographic Institution, /
core   +1 more source

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