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Showing results (321-330 of 334) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics|June 4, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Brain : a Journal of Neurology|March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansSanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
Pageof 34

Showing results (321-330 of 334) with videos related to

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Pageof 34
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics|June 4, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Brain : a Journal of Neurology|March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansSanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
Pageof 34