Results 191 to 200 of about 2,259,944 (347)

Treating refractory corneal hydrops in a male patient with vernal keratoconjunctivitis and mental retardation: a case report. [PDF]

BMC Ophthalmol, 2022
Shih EJ, Lin JC, Peng KL, Chen JL.
europepmc   +1 more source

Community intermediary strategies and tactics to close digital divides and enhance equitable technology use in everyday life

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Online technologies are required for accessing essential services, such as healthcare, transportation, and education. Challenges to online technology access can prevent resource‐constrained communities from connecting to these services. Human intermediaries who act in the middle space between technology and the person using the technology may ...
Marcy G. Antonio, Alicia Stone, Tawanna Dillahunt, Lorraine Buis, Tiffany C. Veinot   +4 more
wiley   +1 more source

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Proceedings of the National Academy of Sciences of the United States of America, 2009
U. Scholl, Murim Choi, Tiewen Liu, V. Ramaekers, M. Häusler, J. Grimmer, S. Tobe, Anita Farhi, C. Nelson-Williams, R. Lifton   +9 more
semanticscholar   +1 more source

<i>De novo</i> frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case report. [PDF]

Front Pediatr
Lin S, Qi Y, Xie H, Sun X, Wang W, Jiang K.   +5 more
europepmc   +1 more source

Cellular distribution of the Fragile X mental retardation protein in the inner ear: a developmental and comparative study in the mouse, rat, gerbil, and chicken. [PDF]

J Comp Neurol, 2023
Wang X, Fan Q, Yu X, Wang Y.
europepmc   +1 more source

From disorientation to preparedness: Information practices as scaffolding in acute crises

Journal of the Association for Information Science and Technology, EarlyView.
Abstract This qualitative study examines how adults in Israel enacted information practices during an acute national crisis. Using the information transitions framework, we investigate how concrete practices emerge and evolve across three stages: understanding, negotiating, and resolving. Semi‐structured Zoom interviews with 18 adults were analyzed via
Lilach Alon, Tali Malinoff, Inbar Levkovich   +2 more
wiley   +1 more source

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Archives of General Psychiatry, 2009
A. Guilmatre, C. Dubourg, A. Mosca, Solenn Legallic, A. Goldenberg, V. Drouin‐Garraud, V. Layet, A. Rosier, S. Briault, F. Bonnet-Brilhault, F. Laumonnier, S. Odent, G. Le Vacon, G. Joly‐Hélas, V. David, C. Bendavid, J. Pinoit, Céline Henry, Caterina Impallomeni, E. Germanò, G. Tortorella, Gabriella Di Rosa, C. Barthélémy, C. Andres, L. Faivre, T. Frebourg, P. Saugier Veber, D. Campion   +27 more
semanticscholar   +1 more source

Fragile X mental retardation 1 gene FMR1 promotes proliferation, migration, and invasion of gastric cancer cells via c-MYC. [PDF]

J Transl Med
Han Y, Mao C, Zhou K, Liang M, Zhao L, Hong Y, Zhang J, Hu N, Wu F.   +8 more
europepmc   +1 more source

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis. [PDF]

J Neuroinflammation, 2021
Thomas S, Fayet OM, Truffault F, Fadel E, Provost B, Hamza A, Berrih-Aknin S, Bonnefont JP, Le Panse R.   +8 more
europepmc   +1 more source

Development and Validation of a Short Version Eye‐Tracking Paradigm for the Screening and Diagnosis of Autism Spectrum Disorder in Qatar

Autism Research, EarlyView.
ABSTRACT Objective behavioral assessments for autism spectrum disorder (ASD) are often time‐intensive and require substantial clinical expertise. Eye‐tracking–based paradigms offer quantifiable measures of social attention that can complement traditional tools.
Fouad Al Shaban, Iman Ghazal, Fatema Al‐Faraj, Sarah Aqel, I. Richard Thompson   +4 more
wiley   +1 more source