Last Posted: Apr 04, 2019
- Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.
Zhang Yan et al. Molecular genetics & genomic medicine 2019 Apr e622 - Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti Stefania et al. Neurogenetics 2019 Mar - Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy.
Ke Qing et al. World journal of pediatrics : WJP 2019 Mar - For Many Boys With Duchenne Muscular Dystrophy, Bright Hope Lies Just Beyond Reach
G Kolata, New York Times, March 25, 2019 - Duchenne Muscular Dystrophy: Diagnosis, Primary Care and Emergency Room Care
April 30, 2019, 1:00pm EST ~ American Academy of Pediatrics - Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy.
Kostek Matthew et al. Sports (Basel, Switzerland) 2019 Mar 7(3) - Clinical and genetic characteristics of female dystrophinopathy carriers.
Zhong Jingzi et al. Molecular medicine reports 2019 Feb - More Progress Toward Gene Editing for Kids with Muscular Dystrophy
NIH Director's Blog, February 2019 - Mutation-Based Therapy for Duchenne Muscular Dystrophy: Antisense Treatment Arrives in the Clinic.
McNally Elizabeth M et al. Circulation 2017 136(11) 979-981 - Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy.
Beksac Mehmet Sinan et al. Journal of pregnancy 2018 20189718316
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