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G Biesecker

Showing results (161-170 of 475) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2025
Patterns of X-linked inheritance: A new approach for the genome eraSanjana Basava, Charles J Billington, Laura Carrel, et al.
American Journal of Medical Genetics|September 14, 1999
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girlsV Shotelersuk, C J Tifft, S Vacha, et al.
American Journal of Medical Genetics. Part A|June 20, 2017
Characterization of thrombosis in patients with Proteus syndromeKim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, et al.
BMJ (Clinical Research Ed.)|November 18, 2021
Should all babies have their genome sequenced at birth?Leslie G Biesecker, Eric D Green, Teri Manolio, et al.
Human Molecular Genetics|May 23, 1998
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VIS Chang, M J Rosenberg, H Morton, et al.
Archives of Dermatology|August 18, 2004
Cutaneous manifestations of proteus syndrome: correlations with general clinical severityDiem Nguyen, Joyce T Turner, Cara Olsen, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patientsKyle T Kurpinski, Patricia A Magyari, Robert J Gorlin, et al.
Human Mutation|October 13, 2018
Updated recommendation for the benign stand-alone ACMG/AMP criterionRajarshi Ghosh, Steven M Harrison, Heidi L Rehm, et al.
Cambridge Quarterly of Healthcare Ethics : CQ : the International Journal of Healthcare Ethics Committees|January 1, 1995
Case: responding to a request for genetic testing that is still in the labL G Biesecker, F S Collins, E G DeRenzo, et al.
Biorxiv : the Preprint Server for Biology|September 26, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordanceJennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
Pageof 48

Showing results (161-170 of 475) with videos related to

Sort By:
Pageof 48
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2025
Patterns of X-linked inheritance: A new approach for the genome eraSanjana Basava, Charles J Billington, Laura Carrel, et al.
American Journal of Medical Genetics|September 14, 1999
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girlsV Shotelersuk, C J Tifft, S Vacha, et al.
American Journal of Medical Genetics. Part A|June 20, 2017
Characterization of thrombosis in patients with Proteus syndromeKim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, et al.
BMJ (Clinical Research Ed.)|November 18, 2021
Should all babies have their genome sequenced at birth?Leslie G Biesecker, Eric D Green, Teri Manolio, et al.
Human Molecular Genetics|May 23, 1998
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VIS Chang, M J Rosenberg, H Morton, et al.
Archives of Dermatology|August 18, 2004
Cutaneous manifestations of proteus syndrome: correlations with general clinical severityDiem Nguyen, Joyce T Turner, Cara Olsen, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patientsKyle T Kurpinski, Patricia A Magyari, Robert J Gorlin, et al.
Human Mutation|October 13, 2018
Updated recommendation for the benign stand-alone ACMG/AMP criterionRajarshi Ghosh, Steven M Harrison, Heidi L Rehm, et al.
Cambridge Quarterly of Healthcare Ethics : CQ : the International Journal of Healthcare Ethics Committees|January 1, 1995
Case: responding to a request for genetic testing that is still in the labL G Biesecker, F S Collins, E G DeRenzo, et al.
Biorxiv : the Preprint Server for Biology|September 26, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordanceJennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
Pageof 48