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Neurobiology of Aging
|
April 20, 2021
Shared and oppositely regulated transcriptomic signatures in Huntington's disease and brain ischemia confirm known and unveil novel potential neuroprotective genes
Ferah Yildirim, Marco Foddis, Sonja Blumenau, et al.
Scientific Reports
|
April 30, 2020
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease
Sonja Blumenau, Marco Foddis, Susanne Müller, et al.
Genes
|
March 28, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 8, 2019
Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition
Annegret Quade, Anne Thiel, Ingo Kurth, et al.
Journal of Human Genetics
|
January 31, 2022
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)
Felix Boschann, Daniel Acero Moreno, Martin A Mensah, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencing
Marie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.
Clinical Genetics
|
September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third
Henrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
European Journal of Medical Genetics
|
June 8, 2020
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome
Felix Boschann, Björn Fischer-Zirnsak, Thomas F Wienker, et al.
Scientific Reports
|
June 23, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans
Fabian Brand, Hannah Klinkhammer, Alexej Knaus, et al.
Journal of Cardiovascular Development and Disease
|
July 25, 2022
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
Franziska Seidel, Kai Thorsten Laser, Karin Klingel, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 48) with videos related to
Sort By:
Page
of 5
Neurobiology of Aging
|
April 20, 2021
Shared and oppositely regulated transcriptomic signatures in Huntington's disease and brain ischemia confirm known and unveil novel potential neuroprotective genes
Ferah Yildirim, Marco Foddis, Sonja Blumenau, et al.
Scientific Reports
|
April 30, 2020
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease
Sonja Blumenau, Marco Foddis, Susanne Müller, et al.
Genes
|
March 28, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 8, 2019
Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition
Annegret Quade, Anne Thiel, Ingo Kurth, et al.
Journal of Human Genetics
|
January 31, 2022
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)
Felix Boschann, Daniel Acero Moreno, Martin A Mensah, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencing
Marie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.
Clinical Genetics
|
September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third
Henrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
European Journal of Medical Genetics
|
June 8, 2020
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome
Felix Boschann, Björn Fischer-Zirnsak, Thomas F Wienker, et al.
Scientific Reports
|
June 23, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans
Fabian Brand, Hannah Klinkhammer, Alexej Knaus, et al.
Journal of Cardiovascular Development and Disease
|
July 25, 2022
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
Franziska Seidel, Kai Thorsten Laser, Karin Klingel, et al.
Page
of 5