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  1. 11721
    “…METHODS: We employed concepts from computer science to create legal requirement clusters that enable legal interoperability between databases for the areas of data protection, data security, Intellectual Property (IP) and security of biosample data. …”
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    Legal assessment tool (LAT): an interactive tool to address privacy and data protection issues for data sharing
  2. 11722
    “…Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. …”
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    Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia
  3. 11723
    “…Exclusion criteria are limited to those at significant risk of harm to self or others, the presence of primary mental health disorder other than anxiety, depression or disruptive behaviour (e.g. psychosis, eating disorder, obsessive-compulsive disorder) or intellectual disability at a level meaning potential participants would be unable to access the intervention. …”
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    Guided self-help interventions for mental health disorders in children with neurological conditions: study protocol for a pilot randomised controlled trial
  4. 11724
    “…The last two decades have been characterized by deep changes for the pharmaceutical sector, including the complete transformation of intellectual property systems at the behest of the World Trade Organization and the consolidation of global active ingredient suppliers in China and India. …”
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    Global pharmaceutical regulation: the challenge of integration for developing states
  5. 11725
    por Bakken, Trygve E., Miller, Jeremy A., Ding, Song-Lin, Sunkin, Susan M., Smith, Kimberly A., Ng, Lydia, Szafer, Aaron, Dalley, Rachel A., Royall, Joshua J., Lemon, Tracy, Shapouri, Sheila, Aiona, Kaylynn, Arnold, James, Bennett, Jeffrey L., Bertagnolli, Darren, Bickley, Kristopher, Boe, Andrew, Brouner, Krissy, Butler, Stephanie, Byrnes, Emi, Caldejon, Shiella, Carey, Anita, Cate, Shelby, Chapin, Mike, Chen, Jefferey, Dee, Nick, Desta, Tsega, Dolbeare, Tim A., Dotson, Nadia, Ebbert, Amanda, Fulfs, Erich, Gee, Garrett, Gilbert, Terri L., Goldy, Jeff, Gourley, Lindsey, Gregor, Ben, Gu, Guangyu, Hall, Jon, Haradon, Zeb, Haynor, David R., Hejazinia, Nika, Hoerder-Suabedissen, Anna, Howard, Robert, Jochim, Jay, Kinnunen, Marty, Kriedberg, Ali, Kuan, Chihchau L., Lau, Christopher, Lee, Chang-Kyu, Lee, Felix, Luong, Lon, Mastan, Naveed, May, Ryan, Melchor, Jose, Mosqueda, Nerick, Mott, Erika, Ngo, Kiet, Nyhus, Julie, Oldre, Aaron, Olson, Eric, Parente, Jody, Parker, Patrick D., Parry, Sheana, Pendergraft, Julie, Potekhina, Lydia, Reding, Melissa, Riley, Zackery L., Roberts, Tyson, Rogers, Brandon, Roll, Kate, Rosen, David, Sandman, David, Sarreal, Melaine, Shapovalova, Nadiya, Shi, Shu, Sjoquist, Nathan, Sodt, Andy J., Townsend, Robbie, Velasquez, Lissette, Wagley, Udi, Wakeman, Wayne B., White, Cassandra, Bennett, Crissa, Wu, Jennifer, Young, Rob, Youngstrom, Brian L., Wohnoutka, Paul, Gibbs, Richard A., Rogers, Jeffrey, Hohmann, John G., Hawrylycz, Michael J., Hevner, Robert F., Molnár, Zoltán, Phillips, John W., Dang, Chinh, Jones, Allan R., Amaral, David G., Bernard, Amy, Lein, Ed S.
    Publicado 2016
    “…Candidate risk genes for neurodevelopmental disorders including primary microcephaly, autism spectrum disorder, intellectual disability, and schizophrenia show disease-specific spatiotemporal enrichment within developing neocortex. …”
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    Comprehensive transcriptional map of primate brain development
  6. 11726
    “…Deletions, duplications, and point mutations of SHANK3 are associated with autism spectrum disorders, intellectual disability, schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder. …”
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    Integrative Analysis of Brain Region-specific Shank3 Interactomes for Understanding the Heterogeneity of Neuronal Pathophysiology Related to SHANK3 Mutations
  7. 11727
    “…This is particularly interesting for the evolving care for people with DS and intellectual disabilities (ID). The aim of this study was to identify existing indicators for medical DS care, by reviewing the literature. …”
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    In search of quality indicators for Down syndrome healthcare: a scoping review
  8. 11728
    “…BACKGROUND: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented. …”
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    A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements
  9. 11729
    por Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
    Publicado 2017
    “…PURPOSE: Mowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. …”
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    Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
  10. 11730
    “…Training is needed to equip them to recognise and assist when someone has a mental health issue or learning/intellectual disability. We undertook a systematic review of the effectiveness of training programmes aimed at increasing knowledge, changing behaviour and/or attitudes of the trainees with regard to mental ill health, mental vulnerability, and learning disabilities. …”
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    Mental health training programmes for non-mental health trained professionals coming into contact with people with mental ill health: a systematic review of effectiveness
  11. 11731
    “…CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation. …”
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    Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
  12. 11732
    “…Inconsistent or limited contributions threaten to devalue authorship as intellectual currency and diminish authors’ responsibility for published content. …”
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    Author contributions to ecological publications: What does it mean to be an author in modern ecological research?
  13. 11733
    por Katoh, Masuko, Katoh, Masaru
    Publicado 2017
    “…Germline mutations in WNT signaling molecules cause hereditary colorectal cancer, bone diseases, exudative vitreoretinopathy, intellectual disability syndrome and PCP-related diseases. …”
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    Molecular genetics and targeted therapy of WNT-related human diseases (Review)
  14. 11734
    “…Most affected patients manifested as refractory epilepsy and severe intellectual disability, only a small number of patients presented with milder clinical patterns. …”
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    SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
  15. 11735
    “…The human specificity provides both intellectual and methodological challenges, lacking a robust model system. …”
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    Disturbed Placental Imprinting in Preeclampsia Leads to Altered Expression of DLX5, a Human-Specific Early Trophoblast Marker
  16. 11736
    “…A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability. A high degree of psychopathology is associated with this syndrome. …”
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    EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction
  17. 11737
    “…BACKGROUND: For children with low self-regulation in the preschool years, the likelihood of poorer intellectual, health, wealth and anti-social outcomes in adulthood is overwhelming. …”
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    Evaluation of the Preschool Situational Self-Regulation Toolkit (PRSIST) Program for Supporting children’s early self-regulation development: study protocol for a cluster randomized controlled trial
  18. 11738
    “…In addition, genetic variants in or near the NEGR1 locus have been associated with obesity and more recently with learning difficulties, intellectual disability and psychiatric disorders. However, experimental evidence is lacking to support a possible link between NEGR1, neuronal growth and behavioral abnormalities. …”
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    Neuronal Growth and Behavioral Alterations in Mice Deficient for the Psychiatric Disease-Associated Negr1 Gene
  19. 11739
    “…METHODS: The modified version of Simonds and Parraga’s sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2–15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). …”
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    A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex
  20. 11740
    por Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
    Publicado 2017
    “…Seventy‐nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic “putaminal eye” was seen in 53%. …”
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    Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
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