PATRICIA ROBBINS-FURMAN to Abnormalities, Multiple
This is a "connection" page, showing publications PATRICIA ROBBINS-FURMAN has written about Abnormalities, Multiple.
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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12; 86(3):462-70.
Score: 0.056
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.045
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Stress and well-being among parents of children with Potocki-Lupski syndrome. J Genet Couns. 2013 Oct; 22(5):633-42.
Score: 0.017
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Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012 Jan; 14(1):90-4.
Score: 0.016
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Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr. 2011 Apr; 158(4):655-659.e2.
Score: 0.015