Rare Diseases
What's New
Last Posted: Mar 26, 2019
- For Many Boys With Duchenne Muscular Dystrophy, Bright Hope Lies Just Beyond Reach
G Kolata, New York Times, March 25, 2019 - Women with bleeding disorders.
Hermans C et al. Haemophilia : the official journal of the World Federation of Hemophilia 2018 May 29-36 - A cytochrome P450 allele confers pyrethroid resistance on a major African malaria vector, reducing insecticide-treated bednet efficacy.
Weedall Gareth D et al. Science translational medicine 2019 Mar (484) - A pilot precision medicine trial for children with diffuse intrinsic pontine glioma - PNOC003: a report from the Pacific Pediatric Neuro-Oncology Consortium.
Mueller Sabine et al. International journal of cancer 2019 Mar - Basics to Fundamentals on Spina Bifida: Resources for the Practicing Primary Care Clinician
April 16, 2019, 1:00 pm EST ~ American Academy of Pediatrics Webinar - Bilateral prophylactic mastectomy in BRCA mutation carriers: what surgeons need to know.
Franceschini Gianluca et al. Annali italiani di chirurgia 2019 901-2 - BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer.
Kwiatkowski Fabrice et al. Hereditary cancer in clinical practice 2019 177 - BRCA mutation testing for first-degree relatives of women with high-grade serous ovarian cancer.
Kwon Janice S et al. Gynecologic oncology 2019 Mar 152(3) 459-464 - Duchenne Muscular Dystrophy: Diagnosis, Primary Care and Emergency Room Care
April 30, 2019, 1:00pm EST ~ American Academy of Pediatrics - Machine learning analysis of gene expression data reveals novel diagnostic and prognostic biomarkers and identifies therapeutic targets for soft tissue sarcomas.
van IJzendoorn David G P et al. PLoS computational biology 2019 15(2) e1006826 - Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies.
Hu Hua et al. Human genomics 2019 Mar 13(1) 14 - Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy.
Kostek Matthew et al. Sports (Basel, Switzerland) 2019 Mar 7(3) - Familial colorectal cancer risk in half siblings and siblings: nationwide cohort study.
Tian Yu et al. BMJ (Clinical research ed.) 2019 Mar l803 - Applications of CRISPR systems in respiratory health: Entering a new 'red pen' era in genome editing.
Moses Colette et al. Respirology (Carlton, Vic.) 2019 Mar - Community Perspectives on Contraception in the Context of the Zika Virus in the U.S. Virgin Islands: Implications for Communication and Messaging.
Brittain Anna W et al. Women's health issues : official publication of the Jacobs Institute of Women's Health 2019 Mar - Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
McCague Allison F et al. American journal of respiratory and critical care medicine 2019 Mar - Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama Hiroki et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(1) 44-52 - Feline herpesvirus vectored-rabies vaccine in cats: A dual protection.
Chen Teng et al. Vaccine 2019 Mar - Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan.
Wallace Jacqueline G et al. Clinical immunology (Orlando, Fla.) 2019 Mar - Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.
Kuehne Benjamin et al. Molecular and cellular probes 2019 Mar
No comments:
Post a Comment