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Joseph G Gleeson

Showing results (191-200 of 325) with videos related to

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American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 20, 2023
TMEM161B modulates radial glial scaffolding in neocortical developmentLu Wang, Caleb Heffner, Keng Ioi Vong, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
Nucleic Acids Research|June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experienceStanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
Nature|May 24, 2023
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagyHector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, et al.
Clinical Genetics|January 12, 2019
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutationsIman G Mahmoud, Mohamed A Elmonem, Nour M Elkhateeb, et al.
Biorxiv : the Preprint Server for Biology|September 26, 2025
A Universal Duplex Sequencing Approach for Accurate Detection of Somatic MutationsShuvro P Nandi, Yuhe Cheng, Shams Al-Azzam, et al.
American Journal of Human Genetics|March 5, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasiaNaiara Akizu, Nuri M Shembesh, Tawfeg Ben-Omran, et al.
American Journal of Human Genetics|July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsSevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.
American Journal of Human Genetics|December 7, 2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disabilityRosalind Law, Tracy Dixon-Salazar, Julie Jerber, et al.
Pageof 33

Showing results (191-200 of 325) with videos related to

Sort By:
Pageof 33
American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 20, 2023
TMEM161B modulates radial glial scaffolding in neocortical developmentLu Wang, Caleb Heffner, Keng Ioi Vong, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
Nucleic Acids Research|June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experienceStanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
Nature|May 24, 2023
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagyHector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, et al.
Clinical Genetics|January 12, 2019
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutationsIman G Mahmoud, Mohamed A Elmonem, Nour M Elkhateeb, et al.
Biorxiv : the Preprint Server for Biology|September 26, 2025
A Universal Duplex Sequencing Approach for Accurate Detection of Somatic MutationsShuvro P Nandi, Yuhe Cheng, Shams Al-Azzam, et al.
American Journal of Human Genetics|March 5, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasiaNaiara Akizu, Nuri M Shembesh, Tawfeg Ben-Omran, et al.
American Journal of Human Genetics|July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsSevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.
American Journal of Human Genetics|December 7, 2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disabilityRosalind Law, Tracy Dixon-Salazar, Julie Jerber, et al.
Pageof 33