JULIE GASTIER-FOSTER to Abnormalities, Multiple
This is a "connection" page, showing publications JULIE GASTIER-FOSTER has written about Abnormalities, Multiple.
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Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 05; 182(5):1201-1208.
Score: 0.449
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Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion. Eur J Med Genet. 2013 Sep; 56(9):521-5.
Score: 0.071
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Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am J Med Genet A. 2010 Dec; 152A(12):3148-53.
Score: 0.059
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Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy. Am J Med Genet A. 2009 Mar; 149A(3):408-14.
Score: 0.052
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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998 Jun; 19(2):140-7.
Score: 0.006