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Julie C Sapp

Showing results (11-20 of 57) with videos related to

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Cold Spring Harbor Molecular Case Studies|October 15, 2021
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndromeChristopher A Ours, Julie C Sapp, Mia B Hodges, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
Quantifying survival in patients with Proteus syndromeJulie C Sapp, Lian Hu, Jean Zhao, et al.
Human Genome Variation|April 16, 2016
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactylyIngrid M Wentzensen, Jennifer J Johnston, John H Patton, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Research participants' attitudes towards the confidentiality of genomic sequence informationLeila Jamal, Julie C Sapp, Katie Lewis, et al.
BMC Medical Genetics|July 29, 2011
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 16, 2010
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneityJulie C Sapp, Darryl Nishimura, Jennifer J Johnston, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 7, 2019
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndromeKim M Keppler-Noreuil, Jay Lozier, Neal Oden, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2019
Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromesKim M Keppler-Noreuil, Jasmine Burton-Akright, Marjorie J Lindhurst, et al.
Orphanet Journal of Rare Diseases|February 6, 2024
Quantification of Proteus syndrome-associated lung diseaseChristopher A Ours, Anna Buser, Mia B Hodges, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2021
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findingsJulie C Sapp, Flavia M Facio, Diane Cooper, et al.
Pageof 6

Showing results (11-20 of 57) with videos related to

Sort By:
Pageof 6
Cold Spring Harbor Molecular Case Studies|October 15, 2021
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndromeChristopher A Ours, Julie C Sapp, Mia B Hodges, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
Quantifying survival in patients with Proteus syndromeJulie C Sapp, Lian Hu, Jean Zhao, et al.
Human Genome Variation|April 16, 2016
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactylyIngrid M Wentzensen, Jennifer J Johnston, John H Patton, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Research participants' attitudes towards the confidentiality of genomic sequence informationLeila Jamal, Julie C Sapp, Katie Lewis, et al.
BMC Medical Genetics|July 29, 2011
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 16, 2010
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneityJulie C Sapp, Darryl Nishimura, Jennifer J Johnston, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 7, 2019
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndromeKim M Keppler-Noreuil, Jay Lozier, Neal Oden, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2019
Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromesKim M Keppler-Noreuil, Jasmine Burton-Akright, Marjorie J Lindhurst, et al.
Orphanet Journal of Rare Diseases|February 6, 2024
Quantification of Proteus syndrome-associated lung diseaseChristopher A Ours, Anna Buser, Mia B Hodges, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2021
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findingsJulie C Sapp, Flavia M Facio, Diane Cooper, et al.
Pageof 6