Results 111 to 120 of about 1,811,176 (286)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

Physiological Ecology of North American Desert Plants

open access: yes, 1997
This book begins with the physical and biological characterization of the four North American deserts and a description of the primary adaptations of plants to environmental stress.
Smith, S. D.   +3 more
core   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru   +13 more
wiley   +1 more source

Desert Plants and Wildflowers

open access: yes
For those interested in the types of plants found in the desert ecosystem, this Web page from the online magazine DesertUSA.com will be a useful guide. Photos and descriptive features of several desert plants are provided in an alphabetical index or can ...

core  

Le projet ERC Desert Networks dans la lettre de l'INSHS

open access: yes, 2019
Les enjeux et les réalisations du projet Desert Networks sont à l'honneur dans la lettre d'information de l'INSHS (Institut des sciences humaines et sociales du CNRS) !
Desert Networks
core  

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

A COMPARATIVE STUDY OF THE FLAVONOID CONTENTS OF TWO EUPHORBIA SPECIES AT MATRUH HABITAT [PDF]

open access: yesEgyptian Journal of Desert Research, 2006
Inas A.m. Tolba, Hanona S. Yaccob
doaj   +1 more source

Progress in the Study on Architecture of Desert Plants

open access: yesShuitu baochi yanjiu, 2011
Based on connotations of plant architecture,modular theory of plants,the present situation on desert plants architecture,visualized and architectural modeling of desert plants were reviewed.Some problems of desert plants architecture were pointed out and
SUN Dong-yuan1   +4 more
doaj  

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