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Elon Pras

Showing results (51-60 of 103) with videos related to

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Genetic Testing|August 30, 2008
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genesMichele Di Perna, Eirini Louizou, Lucia Fischetti, et al.
Circulation|July 25, 2007
Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardiaEyal Nof, David Luria, Dovrat Brass, et al.
European Journal of Human Genetics : EJHG|August 25, 2011
Clinical utility gene card for: CystinuriaThomas Eggermann, Klaus Zerres, Virginia Nunes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutationNoam Domniz, Liat Ries Levavi, Michal Berkenstadt, et al.
Arthritis Care & Research|May 28, 2010
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean feverDina Marek-Yagel, Yackov Berkun, Shai Padeh, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
The American Journal of Cardiology|April 6, 2012
A novel titin mutation in adult-onset familial dilated cardiomyopathyGuy Yoskovitz, Yael Peled, Michael Gramlich, et al.
Journal of Cardiovascular Electrophysiology|July 29, 2010
A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan JewsAvishag Laish-Farkash, Michael Glikson, Dovrat Brass, et al.
Human Genetics|March 22, 2022
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variantAlina Kurolap, David Hagin, Tal Freund, et al.
The Journal of Investigative Dermatology|April 1, 2006
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosisAbraham Zlotogorski, Dina Marek, Liran Horev, et al.
Pageof 11

Showing results (51-60 of 103) with videos related to

Sort By:
Pageof 11
Genetic Testing|August 30, 2008
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genesMichele Di Perna, Eirini Louizou, Lucia Fischetti, et al.
Circulation|July 25, 2007
Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardiaEyal Nof, David Luria, Dovrat Brass, et al.
European Journal of Human Genetics : EJHG|August 25, 2011
Clinical utility gene card for: CystinuriaThomas Eggermann, Klaus Zerres, Virginia Nunes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutationNoam Domniz, Liat Ries Levavi, Michal Berkenstadt, et al.
Arthritis Care & Research|May 28, 2010
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean feverDina Marek-Yagel, Yackov Berkun, Shai Padeh, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
The American Journal of Cardiology|April 6, 2012
A novel titin mutation in adult-onset familial dilated cardiomyopathyGuy Yoskovitz, Yael Peled, Michael Gramlich, et al.
Journal of Cardiovascular Electrophysiology|July 29, 2010
A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan JewsAvishag Laish-Farkash, Michael Glikson, Dovrat Brass, et al.
Human Genetics|March 22, 2022
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variantAlina Kurolap, David Hagin, Tal Freund, et al.
The Journal of Investigative Dermatology|April 1, 2006
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosisAbraham Zlotogorski, Dina Marek, Liran Horev, et al.
Pageof 11