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Last Posted: Apr 04, 2019
- Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
Giau Vo Van et al. International journal of molecular sciences 2019 Mar 20(6) - 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 - Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population.
Saparia Tina et al. The Permanente journal 2019 23 - Brugada Syndrome: Progress in Genetics, Risk Stratification and Management.
Romero Jorge et al. Arrhythmia & electrophysiology review 2019 Mar 8(1) 19-27 - Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti Stefania et al. Neurogenetics 2019 Mar - Genomic subtyping and therapeutic targeting of acute erythroleukemia.
Iacobucci Ilaria et al. Nature genetics 2019 Apr 51(4) 694-704 - Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.
Klepek Holly et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Apr 1-6 - Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Feliubadaló Lídia et al. International journal of cancer 2019 Mar - Pharmacogenomics of chronic obstructive pulmonary disease.
Hersh Craig P et al. Expert review of respiratory medicine 2019 Mar - Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
Menkiszak Janusz et al. Hereditary cancer in clinical practice 2019 1710 - Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.
Hill Melissa et al. European journal of human genetics : EJHG 2019 Mar - The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar - The impact of hereditary angioedema on quality of life and family planning decisions.
Kuman Tunçel Özlem et al. International journal of psychiatry in medicine 2019 Mar 91217419837068 - Current and emerging biologics for the treatment of hereditary angioedema.
Perego Francesca et al. Expert opinion on biological therapy 2019 Mar 1-10 - Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease.
Kang Yoon-Jung et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Mar - Machine learning for patient risk stratification for acute respiratory distress syndrome.
Zeiberg Daniel et al. PloS one 2019 14(3) e0214465 - Management of genetically determined colorectal cancer.
Clark S K et al. The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and Ireland 2019 Mar - Mutational testing in gastrointestinal stromal tumor.
Wang Yu et al. Current cancer drug targets 2019 Mar - Precision medicine for cell therapy in acute respiratory distress syndrome - Authors' reply.
Matthay Michael A et al. The Lancet. Respiratory medicine 2019 Apr 7(4) e14 - Precision medicine for cell therapy in acute respiratory distress syndrome.
Zhang Haibo et al. The Lancet. Respiratory medicine 2019 Apr 7(4) e13
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