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European Journal of Human Genetics : EJHG
|
March 31, 2026
Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
Claudio Peter D'Incal, Bram Dierckx, Claudia Vingerhoets, et al.
Clinical Epigenetics
|
November 11, 2025
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study
Claudio Peter D'Incal, Anke Van Dijck, Dale John Annear, et al.
European Journal of Human Genetics : EJHG
|
February 29, 2024
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
Claudio Peter D'Incal, Dale John Annear, Ellen Elinck, et al.
Annals of Neurology
|
October 1, 2016
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1
Kristien Peeters, Paulius Palaima, Ana L Pelayo-Negro, et al.
Nature Communications
|
November 8, 2019
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy
Sven Bervoets, Na Wei, Maria-Luise Erfurth, et al.
Acta Neuropathologica Communications
|
October 25, 2024
Correction to: ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van Der Aa syndrome autopsy case
Claudio D'Incal, Anke Van Dijck, Joe Ibrahim, et al.
Acta Neuropathologica Communications
|
April 18, 2024
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Claudio D'Incal, Anke Van Dijck, Joe Ibrahim, et al.
American Journal of Human Genetics
|
May 19, 2015
Concurrent whole-genome haplotyping and copy-number profiling of single cells
Masoud Zamani Esteki, Eftychia Dimitriadou, Ligia Mateiu, et al.
Brain : a Journal of Neurology
|
December 17, 2021
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations
Cyril Pottier, Ligia Mateiu, Matthew C Baker, et al.
Nucleic Acids Research
|
May 1, 2013
Single-cell paired-end genome sequencing reveals structural variation per cell cycle
Thierry Voet, Parveen Kumar, Peter Van Loo, et al.
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Showing results (21-30 of 34) with videos related to
Sort By:
Page
of 4
European Journal of Human Genetics : EJHG
|
March 31, 2026
Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
Claudio Peter D'Incal, Bram Dierckx, Claudia Vingerhoets, et al.
Clinical Epigenetics
|
November 11, 2025
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study
Claudio Peter D'Incal, Anke Van Dijck, Dale John Annear, et al.
European Journal of Human Genetics : EJHG
|
February 29, 2024
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
Claudio Peter D'Incal, Dale John Annear, Ellen Elinck, et al.
Annals of Neurology
|
October 1, 2016
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1
Kristien Peeters, Paulius Palaima, Ana L Pelayo-Negro, et al.
Nature Communications
|
November 8, 2019
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy
Sven Bervoets, Na Wei, Maria-Luise Erfurth, et al.
Acta Neuropathologica Communications
|
October 25, 2024
Correction to: ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van Der Aa syndrome autopsy case
Claudio D'Incal, Anke Van Dijck, Joe Ibrahim, et al.
Acta Neuropathologica Communications
|
April 18, 2024
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Claudio D'Incal, Anke Van Dijck, Joe Ibrahim, et al.
American Journal of Human Genetics
|
May 19, 2015
Concurrent whole-genome haplotyping and copy-number profiling of single cells
Masoud Zamani Esteki, Eftychia Dimitriadou, Ligia Mateiu, et al.
Brain : a Journal of Neurology
|
December 17, 2021
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations
Cyril Pottier, Ligia Mateiu, Matthew C Baker, et al.
Nucleic Acids Research
|
May 1, 2013
Single-cell paired-end genome sequencing reveals structural variation per cell cycle
Thierry Voet, Parveen Kumar, Peter Van Loo, et al.
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of 4