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Joseph G Gleeson

Showing results (211-220 of 325) with videos related to

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Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Annals of Neurology|February 3, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente, Francesco Brancati, Jennifer L Silhavy, et al.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Nature Genetics|May 26, 2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndromeAlicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Clinical Genetics|March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
Nature Genetics|January 19, 2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisCarrie M Louie, Gianluca Caridi, Vanda S Lopes, et al.
Pageof 33

Showing results (211-220 of 325) with videos related to

Sort By:
Pageof 33
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Annals of Neurology|February 3, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente, Francesco Brancati, Jennifer L Silhavy, et al.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Nature Genetics|May 26, 2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndromeAlicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Clinical Genetics|March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
Nature Genetics|January 19, 2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisCarrie M Louie, Gianluca Caridi, Vanda S Lopes, et al.
Pageof 33