JOHN BELMONT to Abnormalities, Multiple
This is a "connection" page, showing publications JOHN BELMONT has written about Abnormalities, Multiple.
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.167
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.158
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SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004 Jul; 41(7):e94.
Score: 0.151
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Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol. 2004 May; 19(3):216-20.
Score: 0.149
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Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8.
Score: 0.060
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Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8.
Score: 0.059
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.055
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.
Score: 0.048
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Upper gastrointestinal malformations in Coffin-Siris syndrome. Am J Med Genet A. 2007 Jul 01; 143A(13):1519-21.
Score: 0.046
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Two cases of severe lethal Smith-Lemli-Opitz syndrome. Am J Med Genet. 1987 Jan; 26(1):65-7.
Score: 0.045
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Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002 Jul 22; 111(1):27-30.
Score: 0.033
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A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development. 2002 May; 129(9):2293-302.
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Molecular determinants of left and right outflow tract obstruction. Am J Med Genet. 2000; 97(4):297-303.
Score: 0.028