JULIE GASTIER-FOSTER to Pedigree
This is a "connection" page, showing publications JULIE GASTIER-FOSTER has written about Pedigree.
Connection Strength
0.342
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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: 0.129
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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: 0.082
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Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome. Hum Mutat. 2000 Oct; 16(4):323-33.
Score: 0.034
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Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 03; 182(3):557-560.
Score: 0.032
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Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2020 Mar; 63(3):103735.
Score: 0.031
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Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster. Eur J Hum Genet. 2014 Jan; 22(1):105-9.
Score: 0.020
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Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. Am J Med Genet. 2000 Feb 28; 90(5):390-7.
Score: 0.008
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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: 0.007