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Shelagh Joss

Showing results (51-60 of 78) with videos related to

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Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Cell|July 3, 2024
Loss of transient receptor potential channel 5 causes obesity and postpartum depressionYongxiang Li, Tessa M Cacciottolo, Na Yin, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
Pageof 8

Showing results (51-60 of 78) with videos related to

Sort By:
Pageof 8
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Cell|July 3, 2024
Loss of transient receptor potential channel 5 causes obesity and postpartum depressionYongxiang Li, Tessa M Cacciottolo, Na Yin, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
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