Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Benjamin Kamien

Showing results (11-20 of 37) with videos related to

Pageof 4
Sort By:
American Journal of Medical Genetics. Part A|May 7, 2015
A familial 7q36.3 duplication associated with agenesis of the corpus callosumKeith Wong, Randal Moldrich, Matthew Hunter, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literatureAnna Le Fevre, Jasmin Beygo, Cheryl Silveira, et al.
Neuromuscular Disorders : NMD|April 28, 2022
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1BBenjamin Kamien, Joshua S Clayton, Han-Shin Lee, et al.
Molecular Syndromology|March 30, 2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel SequencingBenjamin Kamien, Anne Ronan, Gemma Poke, et al.
European Journal of Medical Genetics|October 18, 2015
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletionsBenjamin Kamien, M Cristina Digilio, Antonio Novelli, et al.
BMJ Open|June 19, 2019
Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western AustraliaRoyston Ong, Samantha Edwards, Denise Howting, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersChing Moey, Susan J Hinze, Louise Brueton, et al.
Genes|November 25, 2023
Novel Loss of Function Variants in <i>CENPF</i> Including a Large Intragenic Deletion in Patients with Strømme SyndromeDoriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 1, 2025
A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1RGavin Monahan, Jakob Höppner, Harald Jüppner, et al.
Neurology|April 11, 2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic VariantsDora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, et al.
Pageof 4

Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|May 7, 2015
A familial 7q36.3 duplication associated with agenesis of the corpus callosumKeith Wong, Randal Moldrich, Matthew Hunter, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literatureAnna Le Fevre, Jasmin Beygo, Cheryl Silveira, et al.
Neuromuscular Disorders : NMD|April 28, 2022
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1BBenjamin Kamien, Joshua S Clayton, Han-Shin Lee, et al.
Molecular Syndromology|March 30, 2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel SequencingBenjamin Kamien, Anne Ronan, Gemma Poke, et al.
European Journal of Medical Genetics|October 18, 2015
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletionsBenjamin Kamien, M Cristina Digilio, Antonio Novelli, et al.
BMJ Open|June 19, 2019
Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western AustraliaRoyston Ong, Samantha Edwards, Denise Howting, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersChing Moey, Susan J Hinze, Louise Brueton, et al.
Genes|November 25, 2023
Novel Loss of Function Variants in <i>CENPF</i> Including a Large Intragenic Deletion in Patients with Strømme SyndromeDoriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 1, 2025
A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1RGavin Monahan, Jakob Höppner, Harald Jüppner, et al.
Neurology|April 11, 2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic VariantsDora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, et al.
Pageof 4