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Jozef Gecz

Showing results (41-50 of 244) with videos related to

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BMC Medical Genetics|September 4, 2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, et al.
Plos One|July 18, 2013
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesisShane Stegeman, Lachlan A Jolly, Susitha Premarathne, et al.
Clinical Genetics|November 10, 2019
X-linked intellectual disability: Phenotypic expression in carrier femalesCatherine A Ziats, Charles E Schwartz, Jozef Gecz, et al.
Clinical Endocrinology|May 6, 2016
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismJames N Hughes, Matthew Aubert, Jessica Heatlie, et al.
Molecular Psychiatry|June 13, 2018
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severityKristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, et al.
BMC Medical Genetics|November 25, 2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, et al.
Molecular Vision|April 24, 2008
A novel locus for X-linked congenital cataract on Xq24Jamie E Craig, Kathryn L Friend, Jozef Gecz, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2020
Levetiracetam efficacy in PCDH19 Girls Clustering EpilepsyLynette G Sadleir, Kristy L Kolc, Chontelle King, et al.
The Journal of Clinical Endocrinology and Metabolism|March 18, 2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalBryan Haines, James Hughes, Mark Corbett, et al.
Open Biology|April 17, 2024
Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion propertiesStefka Mincheva-Tasheva, Chandran Pfitzner, Raman Kumar, et al.
Pageof 25

Showing results (41-50 of 244) with videos related to

Sort By:
Pageof 25
BMC Medical Genetics|September 4, 2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, et al.
Plos One|July 18, 2013
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesisShane Stegeman, Lachlan A Jolly, Susitha Premarathne, et al.
Clinical Genetics|November 10, 2019
X-linked intellectual disability: Phenotypic expression in carrier femalesCatherine A Ziats, Charles E Schwartz, Jozef Gecz, et al.
Clinical Endocrinology|May 6, 2016
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismJames N Hughes, Matthew Aubert, Jessica Heatlie, et al.
Molecular Psychiatry|June 13, 2018
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severityKristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, et al.
BMC Medical Genetics|November 25, 2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, et al.
Molecular Vision|April 24, 2008
A novel locus for X-linked congenital cataract on Xq24Jamie E Craig, Kathryn L Friend, Jozef Gecz, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2020
Levetiracetam efficacy in PCDH19 Girls Clustering EpilepsyLynette G Sadleir, Kristy L Kolc, Chontelle King, et al.
The Journal of Clinical Endocrinology and Metabolism|March 18, 2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalBryan Haines, James Hughes, Mark Corbett, et al.
Open Biology|April 17, 2024
Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion propertiesStefka Mincheva-Tasheva, Chandran Pfitzner, Raman Kumar, et al.
Pageof 25