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  1. 12241
    “…The various sub-committees have developed a common IRB protocol template, common data elements for standardizing data collections for three organ sites, intellectual property/tech transfer agreements, and material transfer agreements that have been approved by each of the member institutions. …”
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    A Novel Cross-Disciplinary Multi-Institute Approach to Translational Cancer Research: Lessons Learned from Pennsylvania Cancer Alliance Bioinformatics Consortium (PCABC)
  2. 12242
    “…METHODS: Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. Participants were recruited from 26 centres in 17 countries. …”
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    The genetic basis of DOORS syndrome: an exome-sequencing study
  3. 12243
    por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
    Publicado 2014
    “…BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. …”
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    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
  4. 12244
    por Loth, Eva, Charman, Tony, Mason, Luke, Tillmann, Julian, Jones, Emily J. H., Wooldridge, Caroline, Ahmad, Jumana, Auyeung, Bonnie, Brogna, Claudia, Ambrosino, Sara, Banaschewski, Tobias, Baron-Cohen, Simon, Baumeister, Sarah, Beckmann, Christian, Brammer, Michael, Brandeis, Daniel, Bölte, Sven, Bourgeron, Thomas, Bours, Carsten, de Bruijn, Yvette, Chakrabarti, Bhismadev, Crawley, Daisy, Cornelissen, Ineke, Acqua, Flavio Dell’, Dumas, Guillaume, Durston, Sarah, Ecker, Christine, Faulkner, Jessica, Frouin, Vincent, Garces, Pilar, Goyard, David, Hayward, Hannah, Ham, Lindsay M., Hipp, Joerg, Holt, Rosemary J., Johnson, Mark H., Isaksson, Johan, Kundu, Prantik, Lai, Meng-Chuan, D’ardhuy, Xavier Liogier, Lombardo, Michael V., Lythgoe, David J., Mandl, René, Meyer-Lindenberg, Andreas, Moessnang, Carolin, Mueller, Nico, O’Dwyer, Laurence, Oldehinkel, Marianne, Oranje, Bob, Pandina, Gahan, Persico, Antonio M., Ruigrok, Amber N. V., Ruggeri, Barbara, Sabet, Jessica, Sacco, Roberto, Cáceres, Antonia San José, Simonoff, Emily, Toro, Roberto, Tost, Heike, Waldman, Jack, Williams, Steve C. R., Zwiers, Marcel P., Spooren, Will, Murphy, Declan G. M., Buitelaar, Jan K.
    Publicado 2017
    “…METHODS: LEAP includes 437 children and adults with ASD and 300 individuals with typical development or mild intellectual disability. Using an accelerated longitudinal design, each participant is comprehensively characterised in terms of clinical symptoms, comorbidities, functional outcomes, neurocognitive profile, brain structure and function, biochemical markers and genomics. …”
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    The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders
  5. 12245
    “…Blaschke, BioFire Diagnostics LLC: Collaborator, Have intellectual property in BioFire Diagnostics through the University of Utah and Investigator, Licensing agreement or royalty and Research support; J. …”
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    Human Rhinovirus Detection by PCR in Febrile Infants and Risk of Concomitant Bacterial Infection
  6. 12246
    “…Blaschke, BioFire Diagnostics, LLC: Collaborator, Grant Investigator and I have intellectual property and receive royalties from BioFire Diagnostics through the University of Utah, Licensing agreement or royalty and Research support; K. …”
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    Retrospective Evaluation of Infants 1–60 Days Evaluated for Meningitis Using the FilmArray Meningitis/Encephalitis (ME) Panel
  7. 12247
    “…These variants were identified in patients with intellectual disability, developmental delay, epileptic symptomatology, and autism spectrum disorder. …”
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    Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit
  8. 12248
    “…BACKGROUND: Down syndrome (DS) is the most common genetic cause of Alzheimer’s disease (AD), but diagnosis of AD in DS is challenging due to the intellectual disability which accompanies DS. When disease-modifying agents for AD are approved, reliable biomarkers will be required to identify when and how long people with DS should undergo treatment. …”
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    Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase
  9. 12249
    “…Background While genomic rearrangements of chromosome 17 are not uncommon, deletions of chromosome band 17q24.2-q24.3 are rare, and associated features include cardiac abnormalities, characteristic facial appearance, short stature, obesity, syndactyly, intellectual disability, seizures, delayed dentition, and features of Carney Complex. …”
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    MON-917 Carney Complex Due to a Contiguous Gene Deletion Syndrome (17q24.2-17q24.3)
  10. 12250
    “…Exclusion criteria included major medical or neurological illness affecting the CNS and any intellectual developmental disorder. Several parameters related to the elicited RP were recorded, including maximum amplitude and slope. …”
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    M6. REDUCED READINESS POTENTIAL AS A NEUROPHYSIOLOGICAL CORRELATE OF SELF-DISTURBANCES IN EARLY–COURSE PSYCHOSIS: PRELIMINARY FINDINGS FROM A HIGH–DENSITY EEG STUDY
  11. 12251
    “…Exclusion criteria for both groups were: intellectual disability according to DSM-V criteria. …”
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    M192. SENSITIVITY FOR MOTION IS WEAKENED IN FIRST EPISODE PSYCHOSIS
  12. 12252
    “…Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. …”
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    Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat
  13. 12253
    “…This study will assess the acceptability of the simulation-based training format for two scenarios involving an adolescent with autism, with or without intellectual disability, who displays aggressive and externalizing behaviors and the resulting change in confidence in managing clinical aggression. …”
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    Simulation-Based Education for Staff Managing Aggression and Externalizing Behaviors in Children With Autism Spectrum Disorder in the Hospital Setting: Pilot and Feasibility Study Protocol for a Cluster Randomized Controlled Trial
  14. 12254
    “…METHODS: We did a dual-centre cross-sectional study of adults with Down syndrome recruited through a population-based health plan in Barcelona (Spain) and through services for people with intellectual disabilities in Cambridge (UK). Cognitive impairment in participants with Down syndrome was classified with the Cambridge Cognitive Examination for Older Adults with Down Syndrome (CAMCOG-DS). …”
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    Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study
  15. 12255
    “…BACKGROUND: Phelan–McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD) and dysmorphic features. …”
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    A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
  16. 12256
    “…METHODS: Participants (N=44) of different backgrounds were recruited: youth with varying educational levels, youth with an intellectual disability, migrants, adults (aged 40-64 years), and older adults (aged >65 years) via convenience sampling in the region of Twente in the Netherlands. …”
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    The Dutch COVID-19 Contact Tracing App (the CoronaMelder): Usability Study
  17. 12257
    por Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna
    Publicado 2021
    “…Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. …”
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    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
  18. 12258
    “…These changes have important clinical implications, such as autonomic dysfunction or intellectual delay. Although further human study is warranted, our study suggested comprehensive managements are required for HSCR patients, at least in ET(B)(−/−) subtype. …”
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    Brain size reductions associated with endothelin B receptor mutation, a cause of Hirschsprung’s disease
  19. 12259
    “…In view of the patient’s obesity, panhypopituitarism, questionable intellectual disability (non-verbal) IQ of 74), and enlarged ear lobes and helices, the patient was strongly suspected to have Prader Willi and Fragile X syndrome, however chromosomes and array were negative for both. …”
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    PSIS With Phenotypic Features of Prader Willi and Fragile X Syndrome
  20. 12260
    “…CASE PRESENTATION: A 5-year 8-month girl with global developmental delay, spasticity, intellectual disability, dysarthric speech, abnormal eye movements, and hemangioma. …”
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    Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report
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