Publications by authors named "Amy Chartoff"

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Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
Javier Aisenberg, Valerie Auyeung, Helio F Pedro, Rachel Sugalski, Amy Chartoff

Horm Res Paediatr· April 2011

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Six year old with autoimmune polyglandular syndrome: can genetics tell us the story?
Steven Ghanny, Robert Wallerstein, Amy Chartoff, Janet Post, Javier Aisenberg

J Pediatr Endocrinol Metab· July 2010

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Turner syndrome phenotype with 47,XXX karyotype: further investigation warranted?
Robert Wallerstein, Erica Musen, Julie McCarrier, Javier Aisenberg, Amy Chartoff

Am J Med Genet A· February 2004

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