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Susan Blaser

Showing results (171-180 of 178) with videos related to

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Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.
American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practiceKaren W Gripp, Lisa Schill, Lisa Schoyer, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Pageof 18

Showing results (171-180 of 178) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 178 results.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.
American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practiceKaren W Gripp, Lisa Schill, Lisa Schoyer, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
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