9 research outputs found
The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
Full text linkNew stereoselective syntheses of cis- and trans-2-methyl-4-arylpiperidines
No full textA stereoselective approach has been developed for the synthesis of cis- and trans-2-methyl-4-arylpiperidines from a common intermediate. The Ni-catalyzed hydrogenolysis of N-Boc-2-methyl-4-aryl-4-piperidinols, obtained by addition of organometallic reagents on N- Boc-2-methyl-4-piperidone, afforded the trans derivatives with Lip to 95% selectivity whereas the corresponding cis isomers were obtained in the presence of palladium catalysts. (C) 2003 Elsevier Science Ltd. All rights reserved
Generation and Characterization of an Nxf7 Knockout Mouse to Study NXF5 Deficiency in a Patient with Intellectual Disability
No full textThe intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition
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