Results 191 to 200 of about 208,814 (273)

Chromosomal Microarray Diagnostic Yield and Copy Number Variants in a Clinically Well-Characterized Cohort with Nonsyndromic Autism Spectrum Disorder from Southern Brazil. [PDF]

Diagnostics (Basel)
de Souza Santos W, de Figueiredo BC, Mello RG, Antoniuk S, Dória GMS, Carneiro MCB, Cordeiro ML.   +6 more
europepmc   +1 more source

MRI‐based deep learning models match or surpass physician performance for early detection and staging of avascular necrosis of the femoral head: A systematic review

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Purpose Efficient and reliable magnetic resonance imaging (MRI)‐based diagnosis of early avascular necrosis of the femoral head (AVNFH) is essential for guiding treatment but remains challenging due to variability in clinician experience. Deep learning (DL) models offer a promising solution. This review evaluates and summarizes the performance
Khaled Skaik, Jean Pierre Abdallah, Marc Daniel Bouchard, Olufemi R. Ayeni, Mahmoud Almasri   +4 more
wiley   +1 more source

Land Degradation, Cultural Ecosystem Services, and Ecosystem Disservices in the Sumapaz Páramo, Colombia: An Integrated Socioecological Assessment

Land Degradation &Development, EarlyView.
ABSTRACT Understanding the relationships among land degradation, ecosystem functioning and human well‐being is essential for conserving tropical high‐mountain ecosystems. This study examined the relationships among land degradation, Cultural Ecosystem Services (CES), ecosystem disservices (EDS) and visitor perceptions at Laguna Colorados in the Sumapaz
Victor Fabian Forero Ausique, Diana Cristina Díaz Guevara, Silvana Daniela Forero Ausique, Yetfersson Arley Serrato Velosa, Favio Cala Vitery   +4 more
wiley   +1 more source

The asymmetric relationship of parental psychological flexibility and parenting involvement in autism: anxiety as a mediator. [PDF]

Front Public Health
Liu J, Chen Z, Li J, Liu D, Wei X.
europepmc   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Comparison of Sizing Methods to Optimize Device Selection for Percutaneous Closure of Atrial Septal Defects. [PDF]

Cardiol Res Pract
Vural Ç, Baykan A, Doğan A, Kum YE, Akay ÖP, Üzüm K, Narin N.   +6 more
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Executive Functioning, Attention Problems, and Social Impairments in Youth with Neurofibromatosis Type 1 and Autism Spectrum Disorder. [PDF]

J Pediatr Neuropsychol
Zope M, Blaskey L, Berman JI, Fisher MJ, Roberts TPL, Hocking MC.   +5 more
europepmc   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Neuroimmune Dysregulation and Synaptic Pruning in Autism Spectrum Disorder. [PDF]

Biology (Basel)
Bernal-Reyes A, Soriano-Torres O, Rodríguez IDC, Patrone D, Antonucci N, Siniscalco D, Robinson-Agramonte MLA.   +6 more
europepmc   +1 more source