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141
NEUROBLASTOMA AND ASSOCIATED DISORDERS, A SINGLE CENTER EXPERIENCE
Published 2023-10-01“…Paraneoplastic syndromes including opsoclonus-myoclonus-ataxia syndro Conclusion: Here we report on a new patient with Kabuki syndrome and a germline variant in KMT2D who developed a neuroblastoma. …”
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142
Anna Pavlova, danzatrice eurasiana? (I parte)
Published 2010-12-01“…Il suo coraggio, la sua curiosità, il suo genio artistico la portano a viaggiare per i cinque continenti senza sosta, a scoprire danze tradizionali, a praticarle essa stessa, come quelle kabuki, apprese non senza sofferenze in Giappone nel 1922. …”
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143
Shakespeare for all Seasons ? Richard II en Avignon : de Jean Vilar (1957) à Ariane Mnouchkine (1982)
Published 2008-03-01“…In 1947 Jean Vilar opened the first Avignon Festival with an ascetic, charismatic eponymous hero who came to an inner knowledge of himself in his bare prison cell; in 1982 Ariane Mnouchkine offered a splendid visual display by transposing the play into the kabuki tradition; this offered the audience breath-taking and dynamic tableaux of elaborate court ceremonies and rebellious lords.At such a distance in time, the English medieval code of honour was dealt with according to completely different theatrical principles of ethics and aesthetics, mirroring the changes in perspective within French society.…”
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144
Sex-biased and parental allele-specific gene regulation by KDM6A
Published 2022-07-01“…Kdm6a knockout affects genes that have been implicated in phenotypes of Kabuki syndrome caused by KDM6A mutations in human. …”
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145
Dioniso interculturale. Gli adattamenti di Tadashi Suzuki
Published 2020-10-01“…On the one hand the expressionist, codified and sophisticated, Japanese tradition of No and Kabuki, on the other hand the realistic, logocentric and testocentric modern drama of European origin. …”
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146
Reconfiguración del género en las performances clásicas. Androginia actoral.
Published 2015-12-01“…Este artículo reflexiona sobre cómo la androginia, arquetipo de la reunión de lo masculino y lo femenino, es escenificada en el teatro kabuki, el teatro renacentista ingles y el teatro del siglo de Oro español, de manera que podemos hablar de esos actores y actrices que representan al otro sexo como un “tercer sexo”. …”
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147
Emerging role of the ketogenic dietary therapies beyond epilepsy in child neurology
Published 2021-01-01“…Animal and observational studies indicate numerous benefits of KDTs in paediatric neurological conditions apart from their evident benefits in childhood intractable epilepsy, including neurodevelopmental disorders such as autism spectrum disorder, rarer neurogenetic conditions such as Rett syndrome, Fragile X syndrome and Kabuki syndrome, neurodegenerative conditions such as Pelizaeus-Merzbacher disease, and other conditions such as stroke and migraine. …”
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148
Conceptual Twist of Japanese Nuclear Policy: Its Ambivalence and Coherence Under the US Umbrella
Published 2018-01-01“…These factors have forced Japanese conservative governments, including the current Abe administration, to perform Nuclear Kabuki Play resulting from the ambivalence and coherence that characterize Japan’s security policy. …”
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149
The Histone H3K27 Demethylase UTX Regulates Synaptic Plasticity and Cognitive Behaviors in Mice
Published 2017-08-01“…Mutation of Utx has recently been shown to be associated with Kabuki syndrome, a rare congenital anomaly syndrome with dementia. …”
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150
Genetic syndromes and skeletal dysplasia associated with short stature – A case series
Published 2023-01-01“…The common genetic syndromes diagnosed included Noonan syndrome, Kabuki syndrome and common skeletal dysplasia diagnosed were achondroplasia and epiphyseal dysplasia. …”
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151
Arte e ideología en el cine de S. M. Eisenstein
Published 2018-07-01“…Para ello no solo investigó en artes plásticas y teoría del color, sino que también optó por introducir en su obra referencias a otras culturas (como el Kabuki), artistas de vanguardia (Kandinsky) y músicos como Prokofiev. …”
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152
Novas palavras para antigos caminhos
Published 2018-09-01“…Hoje os atores usam técnicas que não buscam formas fixas nem respeitam regras do jogo bem definidas, como acontece no balé, no Kabuki ou no Kathakali, espetáculos que têm formas codificadas. …”
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153
Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan
Published 2022-09-01“…A questionnaire was sent to 378 parents of children and adolescents with the following genetic syndromes: 22q11.2 deletion syndrome, Beckwith–Wiedemann syndrome, Noonan syndrome, Russell–Silver syndrome, Kabuki syndrome, Williams syndrome, Prader–Willi syndrome, and Sotos syndrome. …”
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154
Fireflies in Art: Emphasis on Japanese Woodblock Prints from the Edo, Meiji, and Taishō Periods
Published 2022-08-01“…‘Beauties’, <i>geisha</i>, courtesans, <i>kabuki</i> actors, and insect vendors were also common subjects. …”
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155
La Nouvelle Manga et le cinéma
Published 2016-09-01“…Desser compare son mode narratif à ceux du théâtre Kabuki et des romans japonais. Les films d’Ozu perturbent la linéarité narrative, soulignent les manipulations spatiales, recourent à des ellipses temporelles, emploient une structure épisodique et évite les moments paroxystiques afin d’explorer la banalité de la vie quotidienne. …”
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156
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma
Published 2022-01-01“…KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease; it is also a known cancer driver gene, with multiple somatic mutations found in a few cancer types. …”
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157
Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders
Published 2021-01-01“…The methylation-related conditions discussed include Wiedemann-Steiner, Kabuki, and Sotos syndromes, and the acetylation-related conditions include Rubinstein-Taybi, KAT6A, genitopatellar/Say-Barber-Biesecker-Young-Simpson, and brachydactyly mental retardation syndromes. …”
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158
What’s new in genetics of congenital heart defects
Published 2016-12-01“…Molecular techniques as whole exome sequancing has lead to the identification of new genes for monogenic syndromes with CHD, as for example in Adams-Oliver, Noonan and Kabuki syndrome. The variable expressivity and reduced penetrance of CHDs in genetic syndromes is likely influenced by genetic factors, and several studies have been performed showing the involvement of modifier genes. …”
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159
The Villainous Pontianak? Examining Gender, Culture and Power in Malaysian Horror Films
Published 2016“…Cross cultural influences across borders are common in shaping each other’s culture and a number of Malaysian horror films have been influenced by the Noh and Kabuki-influenced ‘shunen’ (revenge) and ‘kaidan’ (ghost mystery) stories. …”
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160
The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review
Published 2021-10-01“…Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. …”
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