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The Journal of Allergy and Clinical Immunology
|
November 28, 2019
Defining a new immune deficiency syndrome: MAN2B2-CDG
Jan Verheijen, Sunnie Y Wong, Jared H Rowe, et al.
American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
BMC Medical Genomics
|
November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
Robert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Acta Neuropathologica
|
March 31, 2016
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
Jan Verheijen, Tobi Van den Bossche, Julie van der Zee, et al.
Neurobiology of Aging
|
November 18, 2017
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
Jan Verheijen, Julie van der Zee, Ilse Gijselinck, et al.
Brain : a Journal of Neurology
|
June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
American Journal of Human Genetics
|
March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
David Cheerie, Margaret M Meserve, Danique Beijer, et al.
Acta Neuropathologica
|
April 28, 2017
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 18) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 18 results.
The Journal of Allergy and Clinical Immunology
|
November 28, 2019
Defining a new immune deficiency syndrome: MAN2B2-CDG
Jan Verheijen, Sunnie Y Wong, Jared H Rowe, et al.
American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
BMC Medical Genomics
|
November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
Robert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Acta Neuropathologica
|
March 31, 2016
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
Jan Verheijen, Tobi Van den Bossche, Julie van der Zee, et al.
Neurobiology of Aging
|
November 18, 2017
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
Jan Verheijen, Julie van der Zee, Ilse Gijselinck, et al.
Brain : a Journal of Neurology
|
June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
American Journal of Human Genetics
|
March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
David Cheerie, Margaret M Meserve, Danique Beijer, et al.
Acta Neuropathologica
|
April 28, 2017
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, et al.
Page
of 2