“.... We pretend to report a case of MODY type 2 caused by a novel de novo CGK mutation, highlighting the...”
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“... for MYT1 variants. A novel de novo missense variant affecting function, c. 323C>T (p. (Ser108Leu)), was...”
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“... family, have been associated with early infantile epileptic encephalopathy (EIEE). We identified a novel...”
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“... in 40 cases. In this report the authors aim to report a child with a novel de novo interstitial deletion...”
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“... family, have been associated with early infantile epileptic encephalopathy (EIEE). We identified a novel...”
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“...Esse trabalho se propõe a investigar a telenovela brasileira, em particular a “novela das nove...”
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“...Análise do papel das novelas das nove da Rede Globo na sociedade brasileira e sobre como o fenômeno...”
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“... once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274...”
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“... dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel...”
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“... once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274...”
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“...In the episodic novel Boa Nova, the extraphysical author Humberto de Campos (2015) recounts...”
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