Goldberg--Maxwell Syndrome

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Shprintzen-Goldberg syndrome: a rare disorder

Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid Craniosynostosis syndrome. The syndrome was first introduced by Sugarman and Vogel' (1981) however, Shprintzen and Goldberg established this as a separate clinical entity in the year 1982. Since then, approximately sixty such ca...

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KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

Goldberg-Shprintzen syndrome (GOSHS, MIM #609460) is an autosomal recessive disorder of intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). In 2005, homozygosity mapping in a large consanguineous family identified KIAA1279 as the disease-causing gene. KIAA1279 encodes KIF-binding protein (KBP), whose function is incompletely understood. Studies have identified ei...

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Alfred Goldberg

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Lisa Goldberg colloquium talk

The importance of diversification and risk management was recognized by a few visionaries in the early days of investing. Only in the 1950's, however, did these concepts become central. Since then, increasingly sophisticated mathematical and statistical tools have been brought to bear on the problem of estimating the aggregate risk of a portfolio. This risk depends crucially on the covariances ...

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Sharon Goldberg ­­­ Research Statement

As a security researcher, my goal is to develop practical solutions that make computer networks more reliable, predictable, and resilient to attack. To address the grand challenges in security research, I believe that we need to go beyond traditional disciplinary barriers. For instance, cryptography is crucial to deal with hacked devices and malicious parties, but cannot deal with the fact that...

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ژورنال

عنوان ژورنال: BMJ

سال: 1958

ISSN: 0959-8138,1468-5833

DOI: 10.1136/bmj.2.5109.1386