HALEY STREFF to Adult
This is a "connection" page, showing publications HALEY STREFF has written about Adult.
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TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family. Pediatr Neurol. 2020 09; 110:89-91.
Score: 0.027
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Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers. Oncologist. 2016 07; 21(7):869-74.
Score: 0.021
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Brain malformations and seizures by impaired chaperonin function of TRiC. Science. 2024 Nov; 386(6721):516-525.
Score: 0.009
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.009
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Perceived impact of ethnocultural competency training on genetic counselors' clinical interactions. J Genet Couns. 2024 06; 33(3):605-614.
Score: 0.009
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
Score: 0.007
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The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. Am J Med Genet A. 2018 07; 176(7):1667-1669.
Score: 0.006
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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May; 137(5):375-388.
Score: 0.006
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73.
Score: 0.006