SAU WAI CHEUNG to Haploinsufficiency
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Haploinsufficiency.
Connection Strength
0.276
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.118
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Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. Hum Reprod. 2014 May; 29(5):1113-4.
Score: 0.096
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76.
Score: 0.021
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29; 44(6):639-41.
Score: 0.021
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TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A. 2011 Jun; 155A(6):1442-7.
Score: 0.020