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Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 23, 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-Analysis
Leah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
The Journal of Allergy and Clinical Immunology
|
April 16, 2013
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis
Jorge Esparza-Gordillo, Heidi Schaarschmidt, Liming Liang, et al.
Plos Genetics
|
October 11, 2008
Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus
Stephan Weidinger, Christian Gieger, Elke Rodriguez, et al.
Annals of Clinical and Translational Neurology
|
March 19, 2021
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder
Tanja Schmitz-Hübsch, Silke Lux, Peter Bauer, et al.
Clinical Genetics
|
October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities
Salem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
Parkinsonism & Related Disorders
|
July 5, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Saar Anis, Caroline Weill, Penina Ponger, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis
Leah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Parkinsonism & Related Disorders
|
May 20, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population
Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, et al.
Human Genetics
|
July 19, 2006
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
Silke Metzger, Peter Bauer, Jürgen Tomiuk, et al.
Page
of 59
Search research articles
Search
Showing results (491-500 of 585) with videos related to
Sort By:
Page
of 59
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 23, 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-Analysis
Leah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
The Journal of Allergy and Clinical Immunology
|
April 16, 2013
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis
Jorge Esparza-Gordillo, Heidi Schaarschmidt, Liming Liang, et al.
Plos Genetics
|
October 11, 2008
Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus
Stephan Weidinger, Christian Gieger, Elke Rodriguez, et al.
Annals of Clinical and Translational Neurology
|
March 19, 2021
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder
Tanja Schmitz-Hübsch, Silke Lux, Peter Bauer, et al.
Clinical Genetics
|
October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities
Salem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
Parkinsonism & Related Disorders
|
July 5, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Saar Anis, Caroline Weill, Penina Ponger, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis
Leah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Parkinsonism & Related Disorders
|
May 20, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population
Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, et al.
Human Genetics
|
July 19, 2006
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
Silke Metzger, Peter Bauer, Jürgen Tomiuk, et al.
Page
of 59