Results 171 to 180 of about 290,505 (243)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +1 more source

Elucidating the Stereodirecting Effect of C‐4 Acyl Groups on Galactosyl Donors

open access: yesAngewandte Chemie, EarlyView.
Tipping the balance of the reaction coordinate by changing a single protecting group. We demonstrate that α‐ and β‐galactosyl triflates are formed during galactosylation reactions and likely glycosylate according to a Curtin–Hammett scenario. C‐4 acyl groups exert their stereodirecting effect by sterically blocking displacement of α‐galactosyl ...
Floor ter Braak   +8 more
wiley   +2 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

A Homogeneously Catalyzed Paired Electrolytic Cell for Hydrogen Peroxide Production

open access: yesAngewandte Chemie, EarlyView.
Cu(tmpa) and Sn‐TMPyP are compatible and efficient catalysts for 2e−‐ORR and 2e−‐WOR, respectively, which have been employed to assemble an efficient paired electrochemical cell for H2O2 production. The presence of a carbonate buffer is essential to achieve a high activity in the anode compartment, while control over mass transport is essential for a ...
Caterina Trotta   +7 more
wiley   +2 more sources

Development of a limited sampling strategy for apixaban area under the curve estimation in elderly patients with non-valvular atrial fibrillation. [PDF]

open access: yesBMC Geriatr
Sarppreuttikun P   +6 more
europepmc   +1 more source

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