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Anne M Slavotinek

Showing results (61-70 of 93) with videos related to

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Human Mutation|November 19, 2011
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek, Ryan Chao, Tomas Vacik, et al.
Clinical Genetics|August 18, 2020
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous populationFarrah Islam, Stephanie Htun, Li-Wen Lai, et al.
Clinical Genetics|May 15, 2025
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPasesDiana Brightman, Nawaal Shinwari, Aleksey Porollo, et al.
Human Molecular Genetics|May 23, 2007
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationEmma N Hilton, Forbes D C Manson, Jill E Urquhart, et al.
Prenatal Diagnosis|May 31, 2021
Preference for secondary findings in prenatal and pediatric exome sequencingKate Swanson, Teresa N Sparks, Billie R Lianoglou, et al.
Human Molecular Genetics|April 18, 2013
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasmMani Yahyavi, Hana Abouzeid, Ghada Gawdat, et al.
European Journal of Human Genetics : EJHG|February 26, 2015
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndromeConcetta Cafiero, Giuseppe Marangi, Daniela Orteschi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)Kathryn A Phillips, Julia R Trosman, Michael P Douglas, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Human Molecular Genetics|May 9, 2015
DLX4 is associated with orofacial clefting and abnormal jaw developmentDi Wu, Shyamali Mandal, Alex Choi, et al.
Pageof 10

Showing results (61-70 of 93) with videos related to

Sort By:
Pageof 10
Human Mutation|November 19, 2011
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek, Ryan Chao, Tomas Vacik, et al.
Clinical Genetics|August 18, 2020
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous populationFarrah Islam, Stephanie Htun, Li-Wen Lai, et al.
Clinical Genetics|May 15, 2025
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPasesDiana Brightman, Nawaal Shinwari, Aleksey Porollo, et al.
Human Molecular Genetics|May 23, 2007
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationEmma N Hilton, Forbes D C Manson, Jill E Urquhart, et al.
Prenatal Diagnosis|May 31, 2021
Preference for secondary findings in prenatal and pediatric exome sequencingKate Swanson, Teresa N Sparks, Billie R Lianoglou, et al.
Human Molecular Genetics|April 18, 2013
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasmMani Yahyavi, Hana Abouzeid, Ghada Gawdat, et al.
European Journal of Human Genetics : EJHG|February 26, 2015
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndromeConcetta Cafiero, Giuseppe Marangi, Daniela Orteschi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)Kathryn A Phillips, Julia R Trosman, Michael P Douglas, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Human Molecular Genetics|May 9, 2015
DLX4 is associated with orofacial clefting and abnormal jaw developmentDi Wu, Shyamali Mandal, Alex Choi, et al.
Pageof 10