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Last Posted: Jan 16, 2020
- BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling.
Chao Angel et al. Journal of gynecologic oncology 2019 Oct - Access to Multidisciplinary Care for Patients With 22q11.2 Deletion Syndrome: Identifying Breakdowns in the Screening Process.
Abu-Ghname Amjed et al. The Journal of craniofacial surgery 2020 Jan - Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola Amarilla B et al. Frontiers in immunology 2019 102940 - Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.
Rentas Stefan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan - Epidemiology and Clinical Characteristics of Atrial Fibrillation in Patients with Inherited Heart Diseases.
Butters Alexandra et al. Journal of cardiovascular electrophysiology 2020 Jan - Familial Mediterranean fever is associated with increased risk for ischemic heart disease and mortality - perspective derived from a large database.
Gendelman Omer et al. International journal of clinical practice 2020 Jan e13473 - Genetic influence on bleeding and over-anticoagulation risk in patients undergoing warfarin treatment after heart valve replacements.
Zhou Ling et al. Expert opinion on drug metabolism & toxicology 2020 Jan 1-9 - Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos Eliana Marisa et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16(1) 118-130 - Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation.
Martinent Guillaume et al. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2020 Jan - Identification and validation of a three-gene signature as a candidate prognostic biomarker for lower grade glioma.
Xiao Kai et al. PeerJ 2020 8e8312 - Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Dunn P J et al. Human genomics 2020 Jan 14(1) 2 - Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
Lin Yiming et al. Frontiers in genetics 2019 101255 - Performance of ICD-10-CM diagnosis codes for identifying children with Sickle Cell Anemia.
Reeves Sarah L et al. Health services research 2020 Jan - Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening.
Munck Anne et al. Pediatric pulmonology 2020 Jan - Prognosis of BRCA1/2-negative breast cancer patients with HBOC risk factors compared with sporadic breast cancer patients without HBOC risk factors.
Ryu Jai Min et al. Japanese journal of clinical oncology 2020 Jan - Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Tausch Eugen et al. Haematologica 2020 Jan - The Frequency of Familial Congenital Anomalies of the Kidney and Urinary Tract: Should We Screen Asymptomatic First-Degree Relatives Using Urinary Tract Ultrasonography?
Suman Gök Ebru et al. Nephron 2020 Jan 1-6 - Augmented Decision Making for Acral Lentiginous Melanoma Detection Using Deep Convolutional Neural Networks.
Lee S et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2020 Jan - Classifying Pseudogout using Machine Learning Approaches with Electronic Health Record Data.
Tedeschi Sara K et al. Arthritis care & research 2020 Jan - Comparison of supervised machine learning classification techniques in prediction of locoregional recurrences in early oral tongue cancer.
Alabi Rasheed Omobolaji et al. International journal of medical informatics 2019 Dec 136104068
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