المؤلفون: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Noonan syndrome, PTPN11, Mutational analysis, Congenital heart defects, SHP-2, RASopathy, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-0986-5; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/0a3340fdb8c0407ebe9bdd5128735d30

المؤلفون: Vinuth N Puttamallesh, Meenakshi Bhat, Sheela Nampoothiri, Sanjeeva Ghanti Narayanachar, Swathi Shetty, Jeevana Praharsha Athota, Kalpana Gowrishankar, Mohammed Oomer Farooque

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Mutational Analysis, Protein Tyrosine Phosphatase, Non-Receptor Type 11, 030105 genetics & heredity, PTPN11, Cohort Studies, Exon, Noonan syndrome, Hypertelorism, Child, Genetics (clinical), Genetics, Phenotype, Congenital heart defects, Child, Preschool, SHP-2, Female, medicine.symptom, Research Article, Adult, Heart Defects, Congenital, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, India, Short stature, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Germline mutation, medicine, Humans, Family, Genetic Predisposition to Disease, lcsh:RC31-1245, Gene, Genetic Association Studies, Germ-Line Mutation, business.industry, Infant, Newborn, Infant, medicine.disease, Mutational analysis, lcsh:Genetics, 030104 developmental biology, Palpebral fissure, RASopathy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d20d9b0e3a09a83df5bf80e4772d0f
https://pubmed.ncbi.nlm.nih.gov/32164556

المؤلفون: Ramesh Hariharan, Vikram Vittal, Cary J. Buresh, Weiming Shen, Belen Robolledo, Pooja Agrawal, Kenneth R. Eyring, Jemima Jacob, Arun K Hariharan, Sai A. Balaji, Preveen Ramamoorthy, Minothi Parulekar, Gouri Deshpande, Shanmukh Katragadda, Aarthi Ravichandran, Ashwini Shanmugam, Urvashi Bahadur, Kalyanasundaram Subramanian, Kiran Kumari, Sravanthi Parchuru, Vijayashree Gauribidanur Raghavendrachar, Vaijayanti Gupta, Mohammed Oomer Farooque, Smita Agarwal, Divya Vishwanath, Kalpana Dhanuskodi, Vamsi Veeramachaneni, Satish Gupta, Swetha Nayanala, Qiaoling Liang, Satish Sankaran, Melanie Phooi Nee Yong, Manimala Sen

المصدر: Cancer Medicine

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, DNA Copy Number Variations, next‐generation sequencing, Bioinformatics, Polymorphism, Single Nucleotide, Deep sequencing, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Cell Line, Tumor, Neoplasms, medicine, Humans, Radiology, Nuclear Medicine and imaging, Clinical significance, Genetic Predisposition to Disease, Copy-number variation, Genetic Association Studies, Original Research, business.industry, standard‐of‐care therapy, Melanoma, Advanced stage, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Clinical Cancer Research, Standard of Care, DNA, Neoplasm, Sequence Analysis, DNA, solid tumors, medicine.disease, Clinical utility, Immunohistochemistry, Clinical trial, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Cancer management, Treatment decision making, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::355a3e37da4838a5973554a85d38d395
https://pubmed.ncbi.nlm.nih.gov/28371134