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Nature Genetics
|
January 13, 2009
Increased LIS1 expression affects human and mouse brain development
Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Developmental Cell
|
September 16, 2021
Cooperation between melanoma cell states promotes metastasis through heterotypic cluster formation
Nathaniel 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 epilepsy
Daniel 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 apnea
Fan 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 trafficking
Ruizhi 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 disability
Nicole 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 isolates
R 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 function
Atteeq 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 disorders
Flore 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 Disorders
Tadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.
Page
of 32
Search research articles
Search
Showing results (291-300 of 314) with videos related to
Sort By:
Page
of 32
Nature Genetics
|
January 13, 2009
Increased LIS1 expression affects human and mouse brain development
Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Developmental Cell
|
September 16, 2021
Cooperation between melanoma cell states promotes metastasis through heterotypic cluster formation
Nathaniel 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 epilepsy
Daniel 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 apnea
Fan 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 trafficking
Ruizhi 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 disability
Nicole 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 isolates
R 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 function
Atteeq 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 disorders
Flore 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 Disorders
Tadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.
Page
of 32