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European Journal of Human Genetics : EJHG
|
April 12, 2012
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
Cheryl Shoubridge, Alison Gardner, Charles E Schwartz, et al.
Epilepsia
|
September 9, 2011
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
John C Mulley, Sarah E Heron, Robyn H Wallace, et al.
Human Molecular Genetics
|
February 19, 2011
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability
Mireille Melko, Dominique Douguet, Mounia Bensaid, et al.
STAR Protocols
|
September 19, 2022
Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines
Raman Kumar, Karthik S Kamath, Luke Carroll, et al.
Molecular Neurobiology
|
January 7, 2021
Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)
Stefka Mincheva-Tasheva, Alvaro F Nieto Guil, Claire C Homan, et al.
European Journal of Medical Genetics
|
May 22, 2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Sally Ann Lynch, Lam Son Nguyen, Li Yen Ng, et al.
Advances in Experimental Medicine and Biology
|
August 28, 2020
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum
Kristy L Kolc, Rikke S Møller, Lynette G Sadleir, et al.
Journal of Molecular Biology
|
June 29, 2026
UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell function
Urwah Nawaz, Emmylou Nicolas-Martinez, Saba Montazaribarforoushi, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2017
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction
Renée Carroll, Raman Kumar, Marie Shaw, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)
Tod Fullston, Louise Brueton, Tracey Willis, et al.
Page
of 25
Search research articles
Search
Showing results (31-40 of 244) with videos related to
Sort By:
Page
of 25
European Journal of Human Genetics : EJHG
|
April 12, 2012
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
Cheryl Shoubridge, Alison Gardner, Charles E Schwartz, et al.
Epilepsia
|
September 9, 2011
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
John C Mulley, Sarah E Heron, Robyn H Wallace, et al.
Human Molecular Genetics
|
February 19, 2011
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability
Mireille Melko, Dominique Douguet, Mounia Bensaid, et al.
STAR Protocols
|
September 19, 2022
Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines
Raman Kumar, Karthik S Kamath, Luke Carroll, et al.
Molecular Neurobiology
|
January 7, 2021
Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)
Stefka Mincheva-Tasheva, Alvaro F Nieto Guil, Claire C Homan, et al.
European Journal of Medical Genetics
|
May 22, 2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Sally Ann Lynch, Lam Son Nguyen, Li Yen Ng, et al.
Advances in Experimental Medicine and Biology
|
August 28, 2020
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum
Kristy L Kolc, Rikke S Møller, Lynette G Sadleir, et al.
Journal of Molecular Biology
|
June 29, 2026
UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell function
Urwah Nawaz, Emmylou Nicolas-Martinez, Saba Montazaribarforoushi, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2017
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction
Renée Carroll, Raman Kumar, Marie Shaw, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)
Tod Fullston, Louise Brueton, Tracey Willis, et al.
Page
of 25