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Joseph G Gleeson

Showing results (261-270 of 325) with videos related to

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Science (New York, N.Y.)|April 21, 2018
Paternally inherited cis-regulatory structural variants are associated with autismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
American Journal of Human Genetics|January 22, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathyHeba Morsy, Hyeonho Kim, Gyubin Jang, et al.
Neuron|April 15, 2018
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural ProgenitorsKetu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E Schaffer, et al.
American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
American Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.
Science (New York, N.Y.)|April 29, 2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism NetworkMichael J McConnell, John V Moran, Alexej Abyzov, et al.
Neuron|December 19, 2014
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitorsKetu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E Schaffer, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.
Pageof 33

Showing results (261-270 of 325) with videos related to

Sort By:
Pageof 33
Science (New York, N.Y.)|April 21, 2018
Paternally inherited cis-regulatory structural variants are associated with autismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
American Journal of Human Genetics|January 22, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathyHeba Morsy, Hyeonho Kim, Gyubin Jang, et al.
Neuron|April 15, 2018
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural ProgenitorsKetu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E Schaffer, et al.
American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
American Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.
Science (New York, N.Y.)|April 29, 2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism NetworkMichael J McConnell, John V Moran, Alexej Abyzov, et al.
Neuron|December 19, 2014
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitorsKetu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E Schaffer, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.
Pageof 33