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Jozef Gecz

Showing results (101-110 of 245) with videos related to

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American Journal of Human Genetics|May 6, 2008
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationFlorence Molinari, François Foulquier, Patrick S Tarpey, et al.
Molecular Psychiatry|March 7, 2024
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathwayRebekah de Nys, Alison Gardner, Clare van Eyk, et al.
Molecular Cell|May 21, 2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decayIvone G Bruno, Rachid Karam, Lulu Huang, et al.
NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
The Journal of Biological Chemistry|May 18, 2018
<i>O</i>-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signalingNithya Selvan, Stephan George, Fatema J Serajee, et al.
Human Molecular Genetics|March 6, 2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brainLachlan A Jolly, Lam Son Nguyen, Deepti Domingo, et al.
Neuron|January 5, 2018
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyDaniel T Pederick, Kay L Richards, Sandra G Piltz, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
FOXP1 mutations cause intellectual disability and a recognizable phenotypeAnna K Le Fevre, Sharelle Taylor, Neva H Malek, et al.
Human Molecular Genetics|October 19, 2018
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationWujood Khayat, Anna Hackett, Marie Shaw, et al.
Epilepsia Open|January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicismAntonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.
Pageof 25

Showing results (101-110 of 245) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|May 6, 2008
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationFlorence Molinari, François Foulquier, Patrick S Tarpey, et al.
Molecular Psychiatry|March 7, 2024
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathwayRebekah de Nys, Alison Gardner, Clare van Eyk, et al.
Molecular Cell|May 21, 2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decayIvone G Bruno, Rachid Karam, Lulu Huang, et al.
NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
The Journal of Biological Chemistry|May 18, 2018
<i>O</i>-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signalingNithya Selvan, Stephan George, Fatema J Serajee, et al.
Human Molecular Genetics|March 6, 2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brainLachlan A Jolly, Lam Son Nguyen, Deepti Domingo, et al.
Neuron|January 5, 2018
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyDaniel T Pederick, Kay L Richards, Sandra G Piltz, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
FOXP1 mutations cause intellectual disability and a recognizable phenotypeAnna K Le Fevre, Sharelle Taylor, Neva H Malek, et al.
Human Molecular Genetics|October 19, 2018
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationWujood Khayat, Anna Hackett, Marie Shaw, et al.
Epilepsia Open|January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicismAntonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.
Pageof 25