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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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Genetic testing and eHealth usage among Deaf women.
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In: Journal of genetic counseling, vol 28, iss 5 (2019)
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Bilingual Cancer Genetic Education Modules for the Deaf Community: Development and Evaluation of the Online Video Material.
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In: Journal of genetic counseling, vol 27, iss 2 (2018)
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Cancer Counseling of Low-Income Limited English Proficient Latina Women Using Medical Interpreters: Implications for Shared Decision-Making.
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In: Journal of genetic counseling, vol 27, iss 1 (2018)
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Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
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In: Human molecular genetics, vol 27, iss 24 (2018)
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Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).
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In: Twin research and human genetics : the official journal of the International Society for Twin Studies, vol 21, iss 5 (2018)
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Ergänzende Fragen zur Soziologie der Steinzeit und zum Göbekli Tepe
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In: 31 (2017)
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Coevolution of genes and languages and high levels of population structure among the highland populations of Daghestan.
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In: Journal of human genetics, vol 61, iss 3 (2016)
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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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In: American journal of human genetics, vol 99, iss 3 (2016)
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Höhlenmalerei - Göbekli Tepe und die Epigenese: ein Arbeitspapier - Epigenese, Neuronen, Evolution
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In: 4 (2016)
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The Koolen-de Vries syndrome: A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
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Intelligence: Shared genetic basis between Mendelian disorders and a polygenic trait
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Deaf genetic testing and psychological well-being in deaf adults.
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In: Journal of genetic counseling, vol 22, iss 4 (2013)
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Deaf genetic testing and psychological well-being in deaf adults.
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In: Journal of genetic counseling, vol 22, iss 4 (2013)
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Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language
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Effect of pre-test genetic counseling for deaf adults on knowledge of genetic testing.
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In: Journal of genetic counseling, vol 21, iss 2 (2012)
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
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In: Human molecular genetics, vol 21, iss 21 (2012)
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Perda auditiva hereditária: relato de casos Hereditary hearing loss: case report
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In: Revista CEFAC, Vol 10, Iss 1, Pp 117-125 (2008) (2008)
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Genetic and environmental influences on dentofacial structures and oral health: studies of Australian twins and their families
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