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1 . Academic Journal
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
저자
by
Vishnu, Venugopalan Y.
;
Lemmers, Richard J. L. F.
;
Reyaz, Alisha
;
Mishra, Rinkle
;
Ahmad, Tanveer
, et al.
소스
European Journal of Human Genetics
. 32(9):1053-1064
Web of Science
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7 . Academic Journal
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
저자
by
Efthymiou, Stephanie
;
Lemmers, Richard J. L. F.
;
Vishnu, Venugopalan Y.
;
Dominik, Natalia
;
Perrone, Benedetta
, et al.
소스
Biomolecules (2218-273X)
. Nov2023, Vol. 13 Issue 11, p1567. 14p.
Web of Science
Scopus
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7 . Academic Journal
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.
저자
by
Bruels, Christine C.
;
Littel, Hannah R.
;
Daugherty, Audrey L.
;
Stafki, Seth
;
Estrella, Elicia A.
, et al.
소스
Annals of Clinical & Translational Neurology
. Aug2022, Vol. 9 Issue 8, p1302-1309. 8p.
Open Access (Wiley)
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7 . Academic Journal
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
저자
by
Lemmers, Richard J. L. F.
;
van der Vliet, Patrick J.
;
Blatnik, Ana
;
Balog, Judit
;
Zidar, Janez
, et al.
소스
Journal of Medical Genetics; Feb2022, Vol. 59 Issue 2, p180-188, 21p
Full Text (BMJ Journals)
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7 . Academic Journal
Homozygous nonsense variant in associated with facioscapulohumeral muscular dystrophy.
저자
by
Kohei Hamanaka
;
Šikrová, Darina
;
Satomi Mitsuhashi
;
Hiroki Masuda
;
Yukari Sekiguchi
, et al.
소스
Neurology; 6/9/2020, Vol. 94 Issue 23, pe2441-e2447, 7p
Full Text (LWW)
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7 . Academic Journal
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR- Cas9 genome editing.
저자
by
Goossens, Remko
;
van den Boogaard, Marlinde L.
;
Lemmers, Richard J. L. F.
;
Balog, Judit
;
van der Vliet, Patrick J.
, et al.
소스
Journal of Medical Genetics; Dec2019, Vol. 56 Issue 12, p828-837, 10p
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7 . Academic Journal
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
저자
by
Mul, Karlien
;
Lemmers, Richard J. L. F.
;
Kriek, Marjolein
;
van der Vliet, Patrick J.
;
van den Boogaard, Marlinde L.
, et al.
소스
Neurology; 8/7/2018, Vol. 91 Issue 6, pe562-e570, 9p
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7 . Academic Journal
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
저자
by
Balog, Judit
;
Goossens, Remko
;
Lemmers, Richard J. L. F.
;
Straasheijm, Kirsten R.
;
van der Vliet, Patrick J.
, et al.
소스
Journal of Medical Genetics; Jul2018, Vol. 55 Issue 7, p469-478, 10p
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7 . Academic Journal
Adding quantitative muscle MRI to the FSHD clinical trial toolbox.
저자
by
Mul, Karlien
;
Vincenten, Sanne C. C.
;
Voermans, Nicol C.
;
Lemmers, Richard J. L. F.
;
van der Vliet, Patrick J.
, et al.
소스
Neurology; Nov2017, Vol. 89 Issue 20, p2057-2065, 9p, 1 Color Photograph, 2 Black and White Photographs, 1 Chart, 1 Graph
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7 . Academic Journal
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
저자
by
Mason, Amanda G.
;
Slieker, Roderick C.
;
Balog, Judit
;
Lemmers, Richard J. L. F.
;
Chao-Jen Wong
, et al.
소스
Skeletal Muscle
. 6/6/2017, Vol. 7, p1-13. 13p.
Open Access (BioMed Central)
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