Results 231 to 240 of about 120,211 (290)

Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome. [PDF]

J Neurodev Disord
Brimble E, Ventola P, Blomenberg E, Frahlich K, Kuhathaas K, Hart CE, Bahi-Buisson N, Olson HE, Marsh ED, Ayalon G.   +9 more
europepmc   +1 more source

Emotions and policy change in the wake of political scandals: How did the Qatargate shake the European Parliament?

European Policy Analysis, EarlyView.
Abstract While there is an increasing interest in the role of emotions in policy studies, not much is known about how emotions unfold in one of the most emotional situations that can be encountered in politics: political scandals. To investigate how the discursive articulation of emotions shapes the policy responses to political misconduct from a ...
Rosa Sanchez Salgado, Seda Gürkan
wiley   +1 more source

ENSURE: the encyclopedia of suppressor tRNA with an AI assistant. [PDF]

Nucleic Acids Res
Ouyang Z, Zhang Y, Feng F, Zeng X, Wu Q, Hafeez A, Teng W, Kong Y, Bu X, Sun Y, Li B, Wen Y, Lun ZR, Qu L, Feng X, Zheng L.   +15 more
europepmc   +1 more source

Non‐State Regulators? Civil Society as Extension of the State in a Context of a Regularization Scheme for Undocumented Migrants

European Policy Analysis, EarlyView.
ABSTRACT “Opération Papyrus” was implemented in the Swiss Canton of Geneva between 2017 and 2018 with the aim of granting residence permits to undocumented migrants who met pre‐established criteria. This program serves as an exemplary case of involving nongovernmental actors to facilitate what were originally state‐controlled procedures.
Jan‐Erik Refle, Adela Sanela Elezovic, Claudine Burton‐Jeangros, Yves Jackson   +3 more
wiley   +1 more source

A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications. [PDF]

BMC Pulm Med
Franco G, Bertola F, Aloisi F, Promi S, Zanini U, Faverio P, Bentivegna A, Borie R, Crestani B, Cazzaniga G, Luppi F.   +10 more
europepmc   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

MAP3K1/MAP2K4 mutations drive breast cancer progression by compensating for TP53 loss through inactivation of the JNK2-p53-FOSL1 axis. [PDF]

Breast Cancer Res
Hu S, Ji A, Wang M, Li X, Sun L, Gao R, Zhang Y.   +6 more
europepmc   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene. [PDF]

Thromb J
Wei X, Chen W, Zhang J, Mao J.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source