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J C Stevens

Showing results (231-240 of 247) with videos related to

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Nature Communications|September 2, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testingAnouk E J Janssen, Rebekka M Koeck, Rick Essers, 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.
American Journal of Human Genetics|June 6, 2022
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 studyLisanne van Prooyen Schuurman, Erik A Sistermans, Diane Van Opstal, et al.
American Journal of Human Genetics|July 8, 2022
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 studyLisanne van Prooyen Schuurman, Erik A Sistermans, Diane Van Opstal, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
Journal of Medical Genetics|November 4, 2017
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMargot R F Reijnders, Robert Janowski, Mohsan Alvi, et al.
Pageof 25

Showing results (231-240 of 247) with videos related to

Sort By:
Pageof 25
Nature Communications|September 2, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testingAnouk E J Janssen, Rebekka M Koeck, Rick Essers, 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.
American Journal of Human Genetics|June 6, 2022
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 studyLisanne van Prooyen Schuurman, Erik A Sistermans, Diane Van Opstal, et al.
American Journal of Human Genetics|July 8, 2022
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 studyLisanne van Prooyen Schuurman, Erik A Sistermans, Diane Van Opstal, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
Journal of Medical Genetics|November 4, 2017
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMargot R F Reijnders, Robert Janowski, Mohsan Alvi, et al.
Pageof 25