Rare Diseases
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Last Posted: Jun 12, 2019
- Genetic counseling of patients with ovarian carcinoma: acceptance, timing, and psychological wellbeing.
Van de Beek I et al. Journal of community genetics 2019 Jun - Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?
Sousa Alexandra et al. Cardiology research and practice 2019 20192743650 - Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.
Gori Stefania et al. Critical reviews in oncology/hematology 2019 May 14067-72 - A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.
Shearer A Eliot et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun - Clinical Significance of BCL2 , C- MYC , and BCL6 Genetic Abnormalities, Epstein-Barr Virus Infection, CD5 Protein Expression, Germinal Center B Cell/Non-Germinal Center B-Cell Subtypes, Co-expression of MYC/BCL2 Proteins and Co-expression of MYC/BCL2/BCL6 Proteins in Diffuse Large B-Cell Lymphoma: A Clinical and Pathological Correlation Study of 120 Patients.
Ting Choo-Yuen et al. International journal of medical sciences 2019 16(4) 556-566 - Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.
Cao Wen-Ming et al. BMC cancer 2019 Jun 19(1) 551 - Diagnostic Testing for Chronic Granulomatous Disease.
Kuhns Douglas B et al. Methods in molecular biology (Clifton, N.J.) 2019 1982543-571 - Digital PCR-Based Detection of EGFR Mutations in Paired Plasma and CSF Samples of Lung Adenocarcinoma Patients with Central Nervous System Metastases.
Huang Ruofan et al. Targeted oncology 2019 Jun - Fragile X molecular investigation and genetic counseling of intellectual disability/developmental delay patients in an Indian scenario.
Dean Deepika Delsa et al. Expert review of molecular diagnostics 2019 Jun 1-9 - Genetic testing and eHealth usage among Deaf women.
Kushalnagar Poorna et al. Journal of genetic counseling 2019 Jun - Proteomics analysis of human serum of patients with non-small-cell lung cancer reveals proteins as diagnostic biomarker candidates.
Boccellino Mariarosaria et al. Journal of cellular physiology 2019 Jun - Radiomics in Glioblastoma: Current Status and Challenges Facing Clinical Implementation.
Chaddad Ahmad et al. Frontiers in oncology 2019 9374 - The dilemma to diagnose Wilson disease by genetic testing alone.
Stättermayer Albert Friedrich et al. European journal of clinical investigation 2019 Jun e13147 - Wilson disease-treatment perspectives.
Litwin Tomasz et al. Annals of translational medicine 2019 Apr 7(Suppl 2) S68 - AFM's Terrifying Randomness May Not Be So Random - Why does a virus leave one child paralyzed and others unscathed
C Arnold, Johns Hopkins School of Public Health, June 2019 - Cost-effectiveness of screening for HLA-B*1502 prior to initiation of carbamazepine in epilepsy patients of Asian ancestry in the United States.
Choi Hyunmi et al. Epilepsia 2019 Jun - Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
Dallali Hamza et al. Acta diabetologica 2019 May 56(5) 515-523 - Genome-wide cell-free DNA fragmentation in patients with cancer.
Cristiano Stephen et al. Nature 2019 May - Long-Term Outcomes and Aggressiveness of Hereditary Medullary Thyroid Carcinoma: 40 Years of Experience at One Center.
Raue Friedhelm et al. The Journal of clinical endocrinology and metabolism 2019 May - Multiple displacement amplification as the first step can increase the diagnostic efficiency of preimplantation genetic testing for monogenic disease for β-thalassemia.
Fu Yu et al. The journal of obstetrics and gynaecology research 2019 May
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