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Showing results (291-300 of 314) with videos related to

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Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Developmental Cell|September 16, 2021
Cooperation between melanoma cell states promotes metastasis through heterotypic cluster formationNathaniel R Campbell, Anjali Rao, Miranda V Hunter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyDaniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.
Brain : a Journal of Neurology|December 4, 2019
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disabilityNicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, et al.
The Journal of Clinical Investigation|November 13, 2012
HERV-K-specific T cells eliminate diverse HIV-1/2 and SIV primary isolatesR Brad Jones, Keith E Garrison, Shariq Mujib, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Journal of Medical Genetics|October 12, 2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore Zufferey, Elliott H Sherr, Noam D Beckmann, 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.
Pageof 32

Showing results (291-300 of 314) with videos related to

Sort By:
Pageof 32
Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Developmental Cell|September 16, 2021
Cooperation between melanoma cell states promotes metastasis through heterotypic cluster formationNathaniel R Campbell, Anjali Rao, Miranda V Hunter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyDaniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.
Brain : a Journal of Neurology|December 4, 2019
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disabilityNicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, et al.
The Journal of Clinical Investigation|November 13, 2012
HERV-K-specific T cells eliminate diverse HIV-1/2 and SIV primary isolatesR Brad Jones, Keith E Garrison, Shariq Mujib, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Journal of Medical Genetics|October 12, 2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore Zufferey, Elliott H Sherr, Noam D Beckmann, 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.
Pageof 32