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Journal of Cytology & Histology|June 23, 2020
Enhanced Methods for Needle Biopsy and Cryopreservation of Skeletal Muscle in Older AdultsCathy C Lee, Austin Hoang, David Segovia, et al.
American Journal of Human Genetics|May 7, 2005
Replication of autism linkage: fine-mapping peak at 17q21Rita M Cantor, Naoko Kono, Jackie A Duvall, et al.
Cancer Research|September 18, 2004
Gene expression profiling of gliomas strongly predicts survivalWilliam A Freije, F Edmundo Castro-Vargas, Zixing Fang, et al.
Investigative Ophthalmology & Visual Science|April 17, 2009
ZBED4, a BED-type zinc-finger protein in the cones of the human retinaMehrnoosh Saghizadeh, Novrouz B Akhmedov, Clyde K Yamashita, et al.
JAMA Pediatrics|October 4, 2017
Association of Sex With Recurrence of Autism Spectrum Disorder Among SiblingsNathan Palmer, Andrew Beam, Denis Agniel, et al.
BMC Medical Genetics|August 7, 2012
Molecular diagnosis of putative Stargardt Disease probands by exome sequencingSamuel P Strom, Yong-Qing Gao, Ariadna Martinez, et al.
Archives of Iranian Medicine|February 4, 2016
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior ChangeAbbas Tafakhori, Alvin Yu Jin Ng, Sumanty Tohari, et al.
Human Molecular Genetics|March 24, 2016
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy)Irina Kramerova, Natalia Ermolova, Ascia Eskin, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|February 11, 2020
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencingJeremy D Woods, Negar Khanlou, Hane Lee, et al.
Frontiers in Immunology|November 23, 2020
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ TherapyLeidy C Merselis, Shirley Y Jiang, Stanley F Nelson, et al.
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