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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2381e6b592a3d65aa507d63cef2b0b4a

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb534ff5acab5b8c48af7e4863ad5096

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