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Joseph G Gleeson

Showing results (151-160 of 325) with videos related to

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Nature Communications|August 14, 2020
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang, Zhen Li, David Sievert, et al.
Brain : a Journal of Neurology|October 25, 2021
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardationLeonie von Elsner, Guoliang Chai, Pauline E Schneeberger, et al.
American Journal of Human Genetics|March 27, 2012
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndromeBobby G Ng, Karl Hackmann, Melanie A Jones, et al.
Neuropediatrics|September 23, 2014
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
American Journal of Human Genetics|September 3, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.
Journal of Medical Genetics|October 7, 2019
Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephalyShereen Georges Ghosh, Lu Wang, Martin W Breuss, et al.
Human Molecular Genetics|August 15, 2019
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsyCristiana Pelorosso, Françoise Watrin, Valerio Conti, et al.
American Journal of Human Genetics|July 9, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.
Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Pageof 33

Showing results (151-160 of 325) with videos related to

Sort By:
Pageof 33
Nature Communications|August 14, 2020
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang, Zhen Li, David Sievert, et al.
Brain : a Journal of Neurology|October 25, 2021
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardationLeonie von Elsner, Guoliang Chai, Pauline E Schneeberger, et al.
American Journal of Human Genetics|March 27, 2012
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndromeBobby G Ng, Karl Hackmann, Melanie A Jones, et al.
Neuropediatrics|September 23, 2014
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
American Journal of Human Genetics|September 3, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.
Journal of Medical Genetics|October 7, 2019
Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephalyShereen Georges Ghosh, Lu Wang, Martin W Breuss, et al.
Human Molecular Genetics|August 15, 2019
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsyCristiana Pelorosso, Françoise Watrin, Valerio Conti, et al.
American Journal of Human Genetics|July 9, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.
Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Pageof 33