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1281
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1282por Barro, Makoura, Sanogo, Bintou, Kissou, Aimée S., Ouattara, Ad Bafa Ibrahim, Nacro, Boubacar“…Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. …”
Publicado 2015
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1283por Borralleras, Cristina, Mato, Susana, Amédée, Thierry, Matute, Carlos, Mulle, Christophe, Pérez-Jurado, Luis A., Campuzano, Victoria“…Mice heterozygous for a complete deletion (CD) equivalent to the most common deletion found in individuals with Williams-Beuren syndrome (WBS) recapitulate relevant features of the neurocognitive phenotype, such as hypersociability, along with some neuroanatomical alterations in specific brain areas. …”
Publicado 2016
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1284“…It is unclear whether the same phenomenon occurs in neurodevelopmental disorders affecting social development, such as autism spectrum disorder (ASD) and Williams syndrome (WS). METHODS: The present study used a novel eye-tracking paradigm to determine whether hearing a verbal label increases the salience of novel objects in 35 preschoolers with ASD, 18 preschoolers with WS, and 20 typically developing peers. …”
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1285“…Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. …”
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1286por Del Cole, Carolina Grego, Caetano, Sheila Cavalcante, Ribeiro, Wagner, Kümmer, Arthur Melo E. e., Jackowski, Andrea Parolin“…Our main objective was to verify whether adaptive behavior profiles differ in three conditions—Williams Beuren syndrome (WBS), Down syndrome (DS), and autism spectrum disorder (ASD), as compared with healthy controls (HC) and with each other. …”
Publicado 2017
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1287
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1288por Strobl, Philipp“…It describes the life of Charles William Anton, an Austrian refugee from the Anschluss who migrated to Sydney and subsequently became one of the founding fathers of Australian post-war skiing. …”
Publicado 2016
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1289“…Williams syndrome (WS) is a genetic disease with a relatively homogeneous profile: relatively well-preserved language, impaired cognitive activities, and hypersociability. …”
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1290
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1291
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1292
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1293
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1294por Xia, Yu, Huang, Shufang, Wu, Yueheng, Yang, Yongchao, Chen, Shaoxian, Li, Ping, Zhuang, Jian“…BACKGROUND: Williams–Beuren syndrome (WBS; OMIM #194,050) is a rare multisystem disorder of a variable phenotypic spectrum caused by a heterozygous microdeletion in the WBS chromosome region (WBSCR) in 7q11.23. …”
Publicado 2018
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1295
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1296por De Cegli, Rossella, Iacobacci, Simona, Fedele, Anthony, Ballabio, Andrea, di Bernardo, Diego“…Williams-Beuren syndrome (WBS) is a relatively rare disease caused by the deletion of 1.5 to 1.8 Mb on chromosome 7 which contains approximately 28 genes. …”
Publicado 2019
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1297“…The NIA’s Butler-Williams Scholars Program and GSA’s Emerging Scholars and Professional Organization are united in providing career development opportunities for early career scholars in a manner that promotes leadership, diversity, and inclusivity. …”
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1298por Shalev, Nir, Steele, Ann, Nobre, Anna C., Karmiloff-Smith, Annette, Cornish, Kim, Scerif, Gaia“…Sustained attention is compromised for both children with Williams syndrome (WS) and Down's syndrome (DS), but specific difficulties remain poorly understood because of limitations in how sustained attention has been assessed thus far. …”
Publicado 2019
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1299por Petraroli, Maddalena, Riscassi, Sara, Panigari, Arianna, Maltese, Marilena, Esposito, Susanna“…The etiology remains speculative, even though the most accepted theory is that during the first or second decade of life, occlusion of the maxillary ostium causes an interruption in normal sinus development. Williams syndrome (WS) is a rare genetic, multisystem disorder characterized by a constellation of distinctive phenotypic features, including psychomotor delay and cardiovascular abnormalities. …”
Publicado 2020
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1300por İbiş, Osman“…Williams’s jerboa (Scarturus williamsi), a medium-sized jerboa distributed in Anatolia and its adjacent regions, is a member of the four- and five-toed jerboas found mostly in Asia. …”
Publicado 2020
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