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1دورية أكاديمية
المؤلفون: Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta M. Girisha, Shiro Ikegawa
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Kaya Fukushima, Padmini Parthasarathy, Emma M. Wade, Tim Morgan, Kalpana Gowrishankar, David M. Markie, Stephen P. Robertson
المصدر: Genes, Vol 12, Iss 4, p 528 (2021)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Ying Hu, I-Ping Chen, Salome de Almeida, Valdenize Tiziani, Cassio M Raposo Do Amaral, Kalpana Gowrishankar, Maria Rita Passos-Bueno, Ernst J Reichenberger
المصدر: PLoS ONE, Vol 8, Iss 8, p e73576 (2013)
وصف الملف: electronic resource
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5
المؤلفون: S. Lalitha Rajalakshmi, Sabharritha Gunasekaran, Hemchand Krishna Prasad, Kalpana Gowrishankar, Kannan Narayanasamy, Nedunchelian Krishnamoorthy
المصدر: Journal of Pediatric Endocrinology and Diabetes. 2:109-113
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5da4a0628b1e562f3b6cf838b797286d
https://doi.org/10.25259/jped_17_2022 -
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المصدر: Pediatric and Developmental Pathology. 25:327-329
مصطلحات موضوعية: integumentary system, Pediatrics, Perinatology and Child Health, General Medicine, Pathology and Forensic Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7fd898491869f75f4ca8022e35e14300
https://doi.org/10.1177/10935266211065316 -
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المؤلفون: Jai Prakash Soni, Shagun Aggarwal, Ikrormi Rungsung, Divya Pasumarthi, Jayesh Sheth, Prajnya Ranganath, Kalpana Gowrishankar, Mohandas Nair, Ishwar C. Verma, Neerja Gupta, V.H. Sankar, Sumita Danda, Ratna Dua Puri, Mehul Mistry, Ashwin Dalal, S Jamal Md Nurul Jain, Katta M. Girisha, Shubha R. Phadke, Madhulika Kabra, Chaitanya Datar, Riddhi Bhavsar, Anju Shukla, Divya Agrawal
المصدر: Journal of Human Genetics. 65:971-984
مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, Mutation, Mucolipidosis, Population, 030105 genetics & heredity, Biology, medicine.disease, medicine.disease_cause, GNPTG, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, Gene duplication, medicine, Missense mutation, education, Gene, Genetics (clinical)
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المؤلفون: Stephen P. Robertson, Emma M. Wade, David Markie, Padmini Parthasarathy, Kalpana Gowrishankar, Kaya Fukushima, Timothy R. Morgan
المصدر: Genes, Vol 12, Iss 528, p 528 (2021)
Genesمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Case Report, 030105 genetics & heredity, Biology, Short stature, Frameshift mutation, 03 medical and health sciences, Exon, symbols.namesake, Genetics, medicine, FLNB, Genetics (clinical), Whole genome sequencing, Sanger sequencing, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, spondylocarpotarsal synostosis syndrome, Synostosis, medicine.disease, body regions, lcsh:Genetics, 030104 developmental biology, symbols, filamin B, medicine.symptom, SCT
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المؤلفون: Kalpana Gowrishankar, Sudha Ekambaram, Chinambedu Dhandapani Mohanapriya, Bollam Rengaswamy Nammalwar, V. Vettriselvi, Prabha Sengutavan, Perumal Venkatachalam
المصدر: Journal of Cellular Biochemistry. 119:10143-10150
مصطلحات موضوعية: Male, Nephrotic Syndrome, 030232 urology & nephrology, Disease, 030204 cardiovascular system & hematology, Polymorphism, Single Nucleotide, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Mutation frequency, Child, Molecular Biology, Gene, Genetic Association Studies, Proteinuria, business.industry, Infant, Membrane Proteins, Cell Biology, medicine.disease, Phenotype, Child, Preschool, Mutation, Immunology, Population study, Female, Gene polymorphism, medicine.symptom, South indian population, business, Nephrotic syndrome
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المؤلفون: Madhavan Jeevan Kumar, Venkatasubramanian Hemagowri, Jayarama Kadandale, Kalpana Gowrishankar
المصدر: Journal of Genetics. 99
مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, biology, Marker chromosome, Cytogenetics, biology.organism_classification, 01 natural sciences, Molecular biology, Silver stain, 03 medical and health sciences, Chromosome 15, 030104 developmental biology, Speech delay, Genetics, medicine, Satellite (biology), medicine.symptom, Small supernumerary marker chromosome, 010606 plant biology & botany, Fluorescence in situ hybridization