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Orphanet Journal of Rare Diseases
|
March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
European Journal of Neurology
|
June 23, 2026
A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel
Dror Shir, Noa Bregman, Aya Bar David, et al.
The Journal of Experimental Medicine
|
July 20, 2016
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
Amos J Simon, Atar Lev, Yong Zhang, et al.
Journal of Inherited Metabolic Disease
|
September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns
Rachel Rock, Oded Rock, Suha Daas, et al.
Clinical Kidney Journal
|
February 10, 2025
Multiethnic prevalence of the <i>APOL1</i> G1 and G2 variants among the Israeli dialysis population
Dror Ben-Ruby, Danit Atias-Varon, Maayan Kagan, et al.
Autoimmunity Reviews
|
October 18, 2017
Novelties in the field of autoimmunity - 1st Saint Petersburg congress of autoimmunity, the bridge between east and west
Shani Dahan, Yahel Segal, Abdulla Watad, et al.
The New England Journal of Medicine
|
February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
Paulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Scientific Reports
|
September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Ben Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Journal of Inherited Metabolic Disease
|
November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disorders
Orna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 103) with videos related to
Sort By:
Page
of 11
Orphanet Journal of Rare Diseases
|
March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
European Journal of Neurology
|
June 23, 2026
A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel
Dror Shir, Noa Bregman, Aya Bar David, et al.
The Journal of Experimental Medicine
|
July 20, 2016
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
Amos J Simon, Atar Lev, Yong Zhang, et al.
Journal of Inherited Metabolic Disease
|
September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns
Rachel Rock, Oded Rock, Suha Daas, et al.
Clinical Kidney Journal
|
February 10, 2025
Multiethnic prevalence of the <i>APOL1</i> G1 and G2 variants among the Israeli dialysis population
Dror Ben-Ruby, Danit Atias-Varon, Maayan Kagan, et al.
Autoimmunity Reviews
|
October 18, 2017
Novelties in the field of autoimmunity - 1st Saint Petersburg congress of autoimmunity, the bridge between east and west
Shani Dahan, Yahel Segal, Abdulla Watad, et al.
The New England Journal of Medicine
|
February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
Paulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Scientific Reports
|
September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Ben Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Journal of Inherited Metabolic Disease
|
November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disorders
Orna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
Page
of 11