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Human Molecular Genetics
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December 28, 2017
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
Jessica C de Greef, Yvonne D Krom, Bianca den Hamer, et al.
Stem Cell Research
|
September 14, 2019
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
Erik van der Wal, Bianca den Hamer, Patrick J van der Vliet, et al.
Neurology
|
October 27, 2010
Clinical features of facioscapulohumeral muscular dystrophy 2
J C de Greef, R J L F Lemmers, P Camaño, et al.
Plos Genetics
|
July 14, 2009
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, et al.
Brain : a Journal of Neurology
|
November 18, 2024
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy
Marnix Franken, Erik van der Wal, Dongxu Zheng, et al.
Journal of Medical Genetics
|
September 26, 2007
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M M Hagleitner, A Lankester, P Maraschio, et al.
Nature Communications
|
June 23, 2016
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
Peter E Thijssen, Yuya Ito, Giacomo Grillo, et al.
Nature Communications
|
July 29, 2015
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
Peter E Thijssen, Yuya Ito, Giacomo Grillo, et al.
American Journal of Human Genetics
|
May 21, 2011
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
Jessica C de Greef, Jun Wang, Judit Balog, et al.
Nature Communications
|
September 25, 2023
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
Andres Tapia Del Fierro, Bianca den Hamer, Natalia Benetti, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 81) with videos related to
Sort By:
Page
of 9
Human Molecular Genetics
|
December 28, 2017
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
Jessica C de Greef, Yvonne D Krom, Bianca den Hamer, et al.
Stem Cell Research
|
September 14, 2019
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
Erik van der Wal, Bianca den Hamer, Patrick J van der Vliet, et al.
Neurology
|
October 27, 2010
Clinical features of facioscapulohumeral muscular dystrophy 2
J C de Greef, R J L F Lemmers, P Camaño, et al.
Plos Genetics
|
July 14, 2009
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, et al.
Brain : a Journal of Neurology
|
November 18, 2024
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy
Marnix Franken, Erik van der Wal, Dongxu Zheng, et al.
Journal of Medical Genetics
|
September 26, 2007
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M M Hagleitner, A Lankester, P Maraschio, et al.
Nature Communications
|
June 23, 2016
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
Peter E Thijssen, Yuya Ito, Giacomo Grillo, et al.
Nature Communications
|
July 29, 2015
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
Peter E Thijssen, Yuya Ito, Giacomo Grillo, et al.
American Journal of Human Genetics
|
May 21, 2011
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
Jessica C de Greef, Jun Wang, Judit Balog, et al.
Nature Communications
|
September 25, 2023
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
Andres Tapia Del Fierro, Bianca den Hamer, Natalia Benetti, et al.
Page
of 9