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Showing results (181-190 of 187) with videos related to

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Molecular Psychiatry|July 20, 2016
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yieldS Anazi, S Maddirevula, E Faqeih, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Pageof 19

Showing results (181-190 of 187) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 187 results.
Molecular Psychiatry|July 20, 2016
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yieldS Anazi, S Maddirevula, E Faqeih, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Pageof 19