Results 191 to 200 of about 152,836 (291)

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses. [PDF]

Einstein (Sao Paulo)
Angeloni LL, Jorente J, Oliveira Sobrinho RP, Gil-da-Silva-Lopes VL, Vidoti-Nascimento CG, Guaragna MS, Vieira TP, Steiner CE, Brazilian Rare Genomes Project Consortium, Teixeira ACB, Coelho AVC, Quaio CRAC, Moreno CA, Perrone E, Nascimento Junior JBD, Espolaor JGA, Prota JRM, Oliveira Filho JB, Ceroni JRM, Chen K, Ferreira LT, Santana LS, Mofatto LS, Virmond LDA, Silva MFB, Migliavacca MP, Minillo RM, Yamada RY, Sitnik R, Almeida TF, Silva TYT, Cintra VP.   +31 more
europepmc   +1 more source

Decision Theory and Proof Standards for Future Crimes: Possible Uses and Open Questions

Behavioral Sciences &the Law, EarlyView.
ABSTRACT What should be the proof standard for applying preventive criminal sanctions based on an establishment of risk of reoffending? This is an open question in legal systems around the world. Various authors suggest that we can answer it by using decision theory. This approach conceptualises the proof standard as a probabilistic threshold. A person
Hylke Jellema, Johannes Bijlsma
wiley   +1 more source

A rare case of familial chylomicronemia in infancy due to homozygous <i>LMF1</i> variant. [PDF]

JCEM Case Rep
Kumar PR, Dash B, Dash DK, Patro D, Sahu PK, Biswas A.   +5 more
europepmc   +1 more source

Dangerously Vague: The Indeterminacy of Dangerousness Criteria of Preventive Sanctions in Dutch Criminal Law

Behavioral Sciences &the Law, EarlyView.
ABSTRACT The imposition of preventive sanctions on offenders—ranging from preventive detention to community supervision—generally requires that the offender is held to be “dangerous”: a legal “dangerousness criterion” must be met. This article shows that in Dutch criminal law, these dangerousness criteria are vague. They fail to define, or define in an
Max de Vries
wiley   +1 more source

Pharmacological readthrough and base editing for <i>ANK1</i> nonsense mutations in an erythroid model of hereditary spherocytosis. [PDF]

Mol Ther Nucleic Acids
Li S, Li J, Shi W, Nie Z, Zhang S, Ding X, Hu J, Li P, Xie X.   +8 more
europepmc   +1 more source

From Need to Deed: A Concrete Construal Account of Need‐Based Object Valuation

Journal of Consumer Behaviour, EarlyView.
ABSTRACT Need‐based object valuation is when consumers place greater valuations on objects that fulfill their needs. Despite its pervasiveness as a consumer behavior phenomenon, the psychological drivers behind it are not fully understood. This research examines concrete construal level as one mechanism of need‐based object valuation.
Anthony Salerno, Cony M. Ho, Frank R. Kardes, Steven S. Posavac   +3 more
wiley   +1 more source

A novel homozygous <i>CREB3L3</i> variant associated with severe hypertriglyceridaemia: a case report. [PDF]

Eur Heart J Case Rep
Kalkan I, Girón GO, Jaspers E, Vilahur G, Twickler TB.   +4 more
europepmc   +1 more source

Laminar Burning Velocity of Ammonia‐Hydrogen Mixtures Predicted by Machine Learning

Chemie Ingenieur Technik, EarlyView.
Ammonia–hydrogen blends aid defossilization, but slow combustion kinetics require complex modeling. Although chemical kinetic modeling is computationally expensive, machine learning surrogates offer fast predictions. This study trained GPR, DT, and ANN models on 1445 experimental points.
Georg Klepp, Aditya Sharma, Helene Dörksen   +2 more
wiley   +1 more source

Comprehensive Clinical, Neuroradiologic, and Oral Health of 23 Individuals With MOPDII: Molecular Spectrum and Phenotypic Features. [PDF]

Neurol Genet
Akalın A, Toptancı İR, Koç N, Özşin Özler C, Baysan FD, Öz V, Ürel-Demir G, Kökali F, Işık K, Avcı Durmuşalioğlu E, Isik E, Gocmen R, Atik T, Haliloğlu G, Yalnizoglu D, Uzamış Tekçiçek M, Utine GE, Elcioglu NH, Simsek Kiper PO.   +18 more
europepmc   +1 more source