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Biorxiv : the Preprint Server for Biology
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November 21, 2024
<i>C9orf72</i> expansion creates the unstable folate-sensitive fragile site FRA9A
Mila Mirceta, Monika H M Schmidt, Natalie Shum, et al.
NAR Molecular Medicine
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December 13, 2024
<i>C9orf72</i> repeat expansion creates the unstable folate-sensitive fragile site FRA9A
Mila Mirceta, Monika H M Schmidt, Natalie Shum, et al.
Journal of Neurology
|
June 25, 2025
Regional free-water diffusion is more strongly related to neuroinflammation than neurodegeneration
Vishaal Sumra, Mohsen Hadian, Allison A Dilliott, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
Corrine Smolen, Matthew Jensen, Lisa Dyer, et al.
American Journal of Human Genetics
|
November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
Corrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Brain : a Journal of Neurology
|
August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A Verberne, Shuxiang Goh, Jade England, et al.
Nature Genetics
|
August 7, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, et al.
Cells
|
September 28, 2023
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on <i>FMR1</i> Premutation
Flora Tassone, Dragana Protic, Emily Graves Allen, et al.
Brain Communications
|
March 27, 2023
Cognitive correlates of antisaccade behaviour across multiple neurodegenerative diseases
Heidi C Riek, Donald C Brien, Brian C Coe, et al.
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of 136
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Showing results (1331-1340 of 1,358) with videos related to
Sort By:
Page
of 136
Biorxiv : the Preprint Server for Biology
|
November 21, 2024
<i>C9orf72</i> expansion creates the unstable folate-sensitive fragile site FRA9A
Mila Mirceta, Monika H M Schmidt, Natalie Shum, et al.
NAR Molecular Medicine
|
December 13, 2024
<i>C9orf72</i> repeat expansion creates the unstable folate-sensitive fragile site FRA9A
Mila Mirceta, Monika H M Schmidt, Natalie Shum, et al.
Journal of Neurology
|
June 25, 2025
Regional free-water diffusion is more strongly related to neuroinflammation than neurodegeneration
Vishaal Sumra, Mohsen Hadian, Allison A Dilliott, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
Corrine Smolen, Matthew Jensen, Lisa Dyer, et al.
American Journal of Human Genetics
|
November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
Corrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Brain : a Journal of Neurology
|
August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A Verberne, Shuxiang Goh, Jade England, et al.
Nature Genetics
|
August 7, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, et al.
Cells
|
September 28, 2023
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on <i>FMR1</i> Premutation
Flora Tassone, Dragana Protic, Emily Graves Allen, et al.
Brain Communications
|
March 27, 2023
Cognitive correlates of antisaccade behaviour across multiple neurodegenerative diseases
Heidi C Riek, Donald C Brien, Brian C Coe, et al.
Page
of 136