What's New
Last Posted: Feb 03, 2020
- A pneumonia outbreak associated with a new coronavirus of probable bat origin
P ZHou et al, Nature, February 3, 2020 - Cystic Fibrosis Patient Asks for Increased Efforts Around Antibiotic Resistance
Pew Trust, January 28, 2020 - Duchenne muscular dystrophy
H Fox et al, BMJ, January 2020 - A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).
Zöllner Johann Philipp et al. Orphanet journal of rare diseases 2020 Jan 15(1) 23 - Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome.
Méndez-Rosado Luis A et al. Archivos argentinos de pediatria 2020 Feb 118(1) 52-55 - Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.
Zelihic Deniz et al. European journal of medical genetics 2020 Jan 103856 - Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care.
Lee Siang Ing et al. Journal of community genetics 2020 Jan - Familial Dilated Cardiomyopathy.
Peters Stacey et al. Heart, lung & circulation 2019 Dec - From Genetic Testing to Precision Medicine in Epilepsy.
Striano Pasquale et al. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2020 Jan - Genetic Cancer Risk Assessment: a screenshot of the psychosocial profile of women at risk for Hereditary Breast and Ovarian Cancer Syndrome.
Campacci Natalia et al. Psycho-oncology 2020 Jan - Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
Konstantinopoulos Panagiotis A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jan JCO1902960 - Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.
Velázquez-Pérez Luis et al. Cerebellum (London, England) 2020 Jan - Hospitalization rates among patients with cystic fibrosis using pancreatic enzyme replacement therapy.
Trapnell Bruce C et al. Chronic respiratory disease 171479973119900612 - Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.
Verma Jyotsna et al. Journal of pediatric intensive care 2020 Mar 9(1) 40-44 - Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
Knerr Sarah et al. Journal of genetic counseling 2020 Jan - The evaluation of anxiety, depression and quality of life scores of children and adolescents with familial Mediterranean fever.
Sönmez Arzu Önal et al. Rheumatology international 2020 Jan - A robust two-gene signature for glioblastoma survival prediction.
Pan Yuhualei et al. Journal of cellular biochemistry 2020 Jan - Cost-effectiveness of midostaurin in the treatment of newly diagnosed FLT3-mutated acute myeloid leukemia in France.
Tremblay Gabriel et al. The European journal of health economics : HEPAC : health economics in prevention and care 2020 Jan - Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study.
Leeksma Alexander C et al. Haematologica 2020 Jan - Skin cancer diagnosis based on optimized convolutional neural network.
Zhang Ni et al. Artificial intelligence in medicine 2020 Jan 102101756
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