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Showing results (301-310 of 314) with videos related to

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Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
American Journal of Human Genetics|November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletionsHadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
Nature|March 31, 2022
Anatomic position determines oncogenic specificity in melanomaJoshua M Weiss, Miranda V Hunter, Nelly M Cruz, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Genetics in Medicine Open|June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
Neuron|November 6, 2015
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic DiseaseEnder Karaca, Tamar Harel, Davut Pehlivan, et al.
Pageof 32

Showing results (301-310 of 314) with videos related to

Sort By:
Pageof 32
Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
American Journal of Human Genetics|November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletionsHadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
Nature|March 31, 2022
Anatomic position determines oncogenic specificity in melanomaJoshua M Weiss, Miranda V Hunter, Nelly M Cruz, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Genetics in Medicine Open|June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
Neuron|November 6, 2015
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic DiseaseEnder Karaca, Tamar Harel, Davut Pehlivan, et al.
Pageof 32