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Phillis Lakeman

Showing results (31-40 of 51) with videos related to

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European Journal of Human Genetics : EJHG|May 12, 2026
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1Hebah O Althebaiti, James Cooksedge, Martin J Baker, et al.
Human Mutation|September 4, 2013
Hypomorphic NOTCH3 alleles do not cause CADASIL in humansJulie W Rutten, Elles M J Boon, Michael K Liem, et al.
European Journal of Human Genetics : EJHG|March 17, 2016
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
European Journal of Human Genetics : EJHG|October 13, 2017
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practiceSuzanne C E H Sallevelt, Alexander P A Stegmann, Bart de Koning, et al.
Molecular Genetics & Genomic Medicine|October 12, 2021
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature reviewJill K Tjon, Phillis Lakeman, Elisabeth van Leeuwen, et al.
European Journal of Human Genetics : EJHG|January 7, 2022
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, et al.
Pageof 6

Showing results (31-40 of 51) with videos related to

Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|May 12, 2026
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1Hebah O Althebaiti, James Cooksedge, Martin J Baker, et al.
Human Mutation|September 4, 2013
Hypomorphic NOTCH3 alleles do not cause CADASIL in humansJulie W Rutten, Elles M J Boon, Michael K Liem, et al.
European Journal of Human Genetics : EJHG|March 17, 2016
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
European Journal of Human Genetics : EJHG|October 13, 2017
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practiceSuzanne C E H Sallevelt, Alexander P A Stegmann, Bart de Koning, et al.
Molecular Genetics & Genomic Medicine|October 12, 2021
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature reviewJill K Tjon, Phillis Lakeman, Elisabeth van Leeuwen, et al.
European Journal of Human Genetics : EJHG|January 7, 2022
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, et al.
Pageof 6