Results 111 to 120 of about 189,911 (267)
, 1998 Mating tests for phosphoglucomutase (PGM), malate dehydrogenase (MDH) isozymes in muscle, and isocitrate dehydrogenase (IDH) isozymes in liver of ocellate puffer were carried out in order to deduce the genetic system of these isozymes and to investigate ...
岡田, 一宏 +15 more
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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
The Eye of the Chiropterologist: Phenotypic Versus Genotypic Identification of Bats
Ecology and EvolutionBats are a diverse and ecologically important group of mammals that play critical roles in ecosystems. Accurate identification is necessary to comprehend bat species' ecology and behavior to further the conservation of bats. Both phenotypic and genotypic
F. D. Dami +14 more
doaj +1 more source
, 2018 Jiranun Bubpamala,1 Piyatip Khuntayaporn,1 Krit Thirapanmethee,1 Preecha Montakantikul,2 Pitak Santanirand,3 Mullika T Chomnawang1 1Department of Microbiology, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 2Department of Pharmacy, Faculty ...
Bubpamala J +5 more
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Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Sensors for Antibiotics Susceptibility Testing—Recent Advances
Advanced Sensor ResearchThe age of antibiotics, which began with the discovery of penicillin in 1929, marks an important period in medical history, as deadly bacterial infections seemed to be a thing of the past.
Oliver Riester +3 more
doaj +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
From Products to Capabilities: Constructing a Genotypic Product Space
Economic development is a path-dependent process in which countries accumulate capabilities that allow them to move into more complex products and industries.
Schetter, Ulrich +4 more
core
bur_plate_loc - Genotypic microsatellite data in GENEPOP format
, 2015 Genotypic microsatellite data (GENEPOP) format used in Ravinet et al (2015) MS. File contain genotypic data for 14 microsatellite data four for population samples.
Phil McGinnity (410880) +13 more
core +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source