A RARE, RECURRENT, DE NOVO 14Q32.2Q32.31 MICRODELETION OF 1.1 MB IN A 20-YEAR-OLD FEMALE PATIENT WITH A MATERNAL UPD(14)-LIKE PHENOTYPE AND INTELLECTUAL DISABILITY

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal flex 4 heartworm test for conventional karyotyping, fragile X testing, and subtelomeric MLPA analysis.Subseq

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How cumulative is technological knowledge?

AbstractTechnological cumulativeness is considered one of the main mechanisms for technological progress, yet its exact meaning and dynamics often remain unclear.To develop a better understanding of this mechanism, we approach a technology as a body of knowledge consisting of interlinked inventions.Technological cumulativeness can then be understoo

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