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Anne Slavotinek

Showing results (61-70 of 147) with videos related to

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HGG Advances|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
American Journal of Human Genetics|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Human Molecular Genetics|October 19, 2019
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart diseaseDimuthu Alankarage, Justin O Szot, Nick Pachter, et al.
Nature Genetics|March 14, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
JAMA|March 12, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
American Journal of Ophthalmology Case Reports|December 21, 2017
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (<i>GDF3</i>) in a female with unilateral anophthalmia and skeletal anomaliesTanya Bardakjian, Max Krall, Di Wu, et al.
Clinical Genetics|November 8, 2025
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service DeliveryKristin Theobald, Amelle Shillington, Farrah Jackson, et al.
BMC Neurology|April 23, 2026
Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature reviewKochakorn Buasri, Kristin Theobald, Devesh C Pant, et al.
European Journal of Medical Genetics|July 9, 2017
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1Anne Slavotinek, Heather Pua, Ugur Hodoglugil, et al.
Pageof 15

Showing results (61-70 of 147) with videos related to

Sort By:
Pageof 15
HGG Advances|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
American Journal of Human Genetics|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Human Molecular Genetics|October 19, 2019
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart diseaseDimuthu Alankarage, Justin O Szot, Nick Pachter, et al.
Nature Genetics|March 14, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
JAMA|March 12, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
American Journal of Ophthalmology Case Reports|December 21, 2017
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (<i>GDF3</i>) in a female with unilateral anophthalmia and skeletal anomaliesTanya Bardakjian, Max Krall, Di Wu, et al.
Clinical Genetics|November 8, 2025
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service DeliveryKristin Theobald, Amelle Shillington, Farrah Jackson, et al.
BMC Neurology|April 23, 2026
Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature reviewKochakorn Buasri, Kristin Theobald, Devesh C Pant, et al.
European Journal of Medical Genetics|July 9, 2017
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1Anne Slavotinek, Heather Pua, Ugur Hodoglugil, et al.
Pageof 15