Results 81 to 90 of about 1,396,788 (361)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

[Portrait of John Brunato as Masetto in Don Giovanni, Opera Australia, June 1997] [picture] / [PDF]

open access: yes, 1997
Part of the Don McMurdo performing arts collection.; Title devised by cataloguer from captions ...
McMurdo, Don, 1930-2001.
core  

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness   +11 more
wiley   +1 more source

COSSACK MILITARY FORMATIONS IN OTHER STATES POLICY (1918–1945)

open access: yesКиївські історичні студії, 2019
During the civil war in Russia in 1918–1921, the liberation efforts of the Cossacks of Don, Kuban, and Terek were unsuccessful, and their lands were incorporated into the USSR.
Volodymyr Komar, Adam Szymanowicz
doaj   +1 more source

[Portraits of Miriam Gormley as Zerlina and Richard Alexander as Masetto in Don Giovanni, Australian Opera, September 1993] [picture] / [PDF]

open access: yes, 1993
Part of the Don McMurdo performing arts collection.; Title devised by cataloguer from captions ...
McMurdo, Don, 1930-2001.
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

[Portrait of John Wegner as Don Alfonso and unidentified artist as Lucrezia in Lucrezia Borgia, Australian Opera, July 1997] [picture] / [PDF]

open access: yes, 1997
Part of the Don McMurdo performing arts collection.; Title devised by cataloguer from captions ...
McMurdo, Don, 1930-2001.
core  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Analyse critique de la complexité sociale du don : la dialectique de la générosité

open access: yesM@GM@
Cette chronique examine l’ambiguïté sociale entourant l’acte de donner dans les sociétés contemporaines. À partir d’une analyse interdisciplinaire, incluant des perspectives philosophiques, sociologiques et économiques, nous explorons les multiples ...
Ala Eddine Bakhouch
doaj   +1 more source

Following up on a Margalevian concept: Interactions and exchanges among adjacent parcels of coastal landscapes

open access: yesScientia Marina, 2001
Some decades ago Margalef speculated that study of the exchanges across boundaries that separate different types of ecological systems would provide significant insights about properties and processes within the units that make up ecological mosaics ...
I. Valiela   +7 more
doaj   +1 more source

Home - About - Disclaimer - Privacy