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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. [electronic resource] by
- Larsen, Mirjam
- Rost, Simone
- El Hajj, Nady
- Ferbert, Andreas
- Deschauer, Marcus
- Walter, Maggie C
- Schoser, Benedikt
- Tacik, Pawel
- Kress, Wolfram
- Müller, Clemens R
Producer: 20160203
In:
European journal of human genetics : EJHG vol. 23
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106.
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Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. [electronic resource] by
- Hammer, Michael F
- Ishii, Atsushi
- Johnstone, Laurel
- Tchourbanov, Alexander
- Lau, Branden
- Sprissler, Ryan
- Hallmark, Brian
- Zhang, Miao
- Zhou, Jin
- Watkins, Joseph
- Hirose, Shinichi
Producer: 20171006
In:
PloS one vol. 12
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107.
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Coordinate regulation of ELF5 and EHF at the chr11p13 CF modifier region. [electronic resource] by
- Swahn, Hannah
- Sabith Ebron, Jey
- Lamar, Kay-Marie
- Yin, Shiyi
- Kerschner, Jenny L
- NandyMazumdar, Monali
- Coppola, Candice
- Mendenhall, Eric M
- Leir, Shih-Hsing
- Harris, Ann
Producer: 20200909
In:
Journal of cellular and molecular medicine vol. 23
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Genome-wide search for higher order epistasis as modifiers of treatment effects on bone mineral density in childhood cancer survivors. [electronic resource] by
- Im, Cindy
- Ness, Kirsten K
- Kaste, Sue C
- Chemaitilly, Wassim
- Moon, Wonjong
- Sapkota, Yadav
- Brooke, Russell J
- Hudson, Melissa M
- Robison, Leslie L
- Yasui, Yutaka
- Wilson, Carmen L
Producer: 20181211
In:
European journal of human genetics : EJHG vol. 26
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Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. [electronic resource] by
- Li, Qiaoli
- Philip, Vivek M
- Stearns, Timothy M
- Bubier, Jason A
- King, Benjamin L
- Low, Benjamin E
- Wiles, Michael V
- Saeidian, Amir Hossein
- Sundberg, Beth A
- Uitto, Jouni
- Sundberg, John P
Producer: 20200605
In:
The Journal of investigative dermatology vol. 139
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