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Annals of Clinical and Translational Neurology
|
August 5, 2025
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2023
Episignature analysis of moderate effects and mosaics
Konrad Oexle, Michael Zech, Lara G Stühn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 14, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin
Isabell Cordts, Demet Önder, Andreas Traschütz, et al.
Current Biology : CB
|
March 23, 2023
Genomic analyses of hair from Ludwig van Beethoven
Tristan James Alexander Begg, Axel Schmidt, Arthur Kocher, et al.
HGG Advances
|
June 30, 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19
Jannik Boos, Caspar I van der Made, Gayatri Ramakrishnan, et al.
Human Genetics
|
December 10, 2021
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, et al.
Nature Genetics
|
February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Human Genomics
|
January 24, 2026
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)
Ayda Abolhassani, T Madhusankha Alawathurage, Axel Schmidt, et al.
Human Molecular Genetics
|
August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Zhigang Liu, Baozhong Xin, Iris N Smith, et al.
Page
of 16
Search research articles
Search
Showing results (141-150 of 160) with videos related to
Sort By:
Page
of 16
Annals of Clinical and Translational Neurology
|
August 5, 2025
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2023
Episignature analysis of moderate effects and mosaics
Konrad Oexle, Michael Zech, Lara G Stühn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 14, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin
Isabell Cordts, Demet Önder, Andreas Traschütz, et al.
Current Biology : CB
|
March 23, 2023
Genomic analyses of hair from Ludwig van Beethoven
Tristan James Alexander Begg, Axel Schmidt, Arthur Kocher, et al.
HGG Advances
|
June 30, 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19
Jannik Boos, Caspar I van der Made, Gayatri Ramakrishnan, et al.
Human Genetics
|
December 10, 2021
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, et al.
Nature Genetics
|
February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Human Genomics
|
January 24, 2026
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)
Ayda Abolhassani, T Madhusankha Alawathurage, Axel Schmidt, et al.
Human Molecular Genetics
|
August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Zhigang Liu, Baozhong Xin, Iris N Smith, et al.
Page
of 16