المؤلفون: Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami

المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)

مصطلحات موضوعية: chronic renal failure, Fabry disease, GLA mutation, hypertrophic cardiomyopathy, late onset, stroke, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/1fc4e82c88a64b728007b9797e36a37d

المؤلفون: Akella Radha Rama Devi, Lokesh Lingappa, Shaik Mohammad Naushad

المصدر: Annals of Indian Academy of Neurology, Vol 22, Iss 4, Pp 523-524 (2019)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=4;spage=523;epage=524;aulast=Rama; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/79553da01ff24c3a80975941fc38df5a

المؤلفون: Kollati, Yedukondalu, Akella, Radha Rama Devi^{Aff2, Aff3}, Naushad, Shaik Mohammad, Borkar, Divya, Thalla, Maunika, Nagalingam, Swapna, Lingappa, Lokesh, Patel, Rajesh K., Reddy, G. Bhanuprakash^Aff4, Dirisala, Vijaya R.^Aff1

المصدر: Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. 47(10):7467-7475

المؤلفون: Abdelkreem, Elsayed^{Aff13, Aff14}, Akella, Radha Rama Devi^Aff15, Dave, Usha^Aff16, Sane, Sudhir^Aff17, Otsuka, Hiroki^Aff13, Sasai, Hideo^Aff13, Aoyama, Yuka^Aff18, Nakama, Mina^Aff19, Ohnishi, Hidenori^Aff13, Mahmoud, Shaimaa^Aff14, Abd El Aal, Mohamed^Aff14, Fukao, Toshiyuki^{Aff13, Aff19}

المساهمون: Baumgartner, Matthias R., Series editor^Aff1, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}, Baumgartner, Matthias, editor^Aff8

المصدر: JIMD Reports, Volume 35. 35:59-65

المؤلفون: Kollati, Yedukondalu, Akella, Radha Rama Devi, Naushad, Shaik Mohammad, Thalla, Maunika, Reddy, G Bhanuprakash, Dirisala, Vijaya R.^Aff1

المصدر: 3 Biotech. 10(6)

المؤلفون: Gouri Rao Passi, Swati Pandey, Akella Radha Rama Devi, Ramesh Konanki, Abhishek Ravindra Jain, Shweta Bhatnagar, Ruchi Tripathi, Vivek Jain

المصدر: Brain and Development. 44:271-280

مصطلحات موضوعية: Male, Movement Disorders, Brain Diseases, Metabolic, Inborn, India, General Medicine, Creatine, Plasma Membrane Neurotransmitter Transport Proteins, Developmental Neuroscience, Neurodevelopmental Disorders, Child, Preschool, Pediatrics, Perinatology and Child Health, Mental Retardation, X-Linked, Humans, Female, Guanidinoacetate N-Methyltransferase, Language Development Disorders, Neurology (clinical), Child, Follow-Up Studies, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f91b93e9ab488f2de02f0a91bd5e94
https://doi.org/10.1016/j.braindev.2021.12.004

المؤلفون: Muge Sayitoglu, Raif S. Geha, Luca Maragliano, Carla Borzacchiello, A Worth, Ghassan Dbaibo, Moaffaq Mahdi, Bénédicte Neven, Peter Ciznar, Ioanna A. Rota, Ana E. Sousa, José Gonçalo Marques, Akella Radha Rama Devi, Emilia Cirillo, Rima Hanna-Wakim, E. Graham Davies, Giuliana Giardino, Alexandra Y. Kreins, Janet Chou, Sule Haskologlu, Georg A. Holländer, Fabio Benfenati, Candan Islamoglu, Figen Dogu, Fatima Dhalla, Claudio Pignata, Sinem Firtina, Aydan Ikinciogullari, Svetlana O. Sharapova

المساهمون: Repositório da Universidade de Lisboa, İstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümü, Sinem Fırtına / 0000-0002-3370-8545, Fırtına, Sinem, Sinem Fırtına / X-8520-2018, Sinem Fırtına / 16642650000, Giardino, G., Sharapova, S. O., Ciznar, P., Dhalla, F., Maragliano, L., Radha Rama Devi, A., Islamoglu, C., Ikinciogullari, A., Haskologlu, S., Dogu, F., Hanna-Wakim, R., Dbaibo, G., Chou, J., Cirillo, E., Borzacchiello, C., Kreins, A. Y., Worth, A., Rota, I. A., Marques, J. G., Sayitoglu, M., Firtina, S., Mahdi, M., Geha, R., Neven, B., Sousa, A. E., Benfenati, F., Hollander, G. A., Davies, E. G., Pignata, C.

المصدر: Journal of Clinical Immunology
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, FOXN1, DNA Mutational Analysis, Molecular Conformation, Compound heterozygosity, 0302 clinical medicine, Immunology and Allergy, heterozygous, Homozygous, Dominance (genetics), nail dystrophy, Homozygote, Hematopoietic Stem Cell Transplantation, Disease Management, High-Throughput Nucleotide Sequencing, Forkhead Transcription Factors, heterozygou, Phenotype, Pedigree, Treatment Outcome, Child, Preschool, Original Article, Female, Omenn syndrome, Heterozygote, Immunology, homozygous, Cell Line, Gene product, 03 medical and health sciences, Structure-Activity Relationship, Nude SCID, medicine, Compound heterozygous, Humans, Nail dystrophy, Genetic Predisposition to Disease, Gene, Genetic Association Studies, compound heterozygous, Newborn screening, business.industry, compound heterozygou, Alopecia, medicine.disease, alopecia, 030104 developmental biology, Heterozygous, Genetic Loci, Mutation, Severe Combined Immunodeficiency, business, EBV-related lymphoproliferative disease, homozygou, 030215 immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f93e2f8920d101e5992eb97d15e3b0
http://europepmc.org/articles/PMC8068652

المؤلفون: Sumita Danda, Ishwar Chander Verma, Neerja Gupta, Ravinder Makkar, Prajnya Ranganath, Hisham Ahamed, Ashwin Dalal, Meenakshi Bhat, Madhulika Kabra, Uma Ramaswami, Sunita Bijarnia-Mahay, Akella Radha Rama Devi, Amrita Bhattacherjee, Ratna Dua Puri, Shubha R. Phadke, Sheela Nampoothiri, Dhanya Yesodharan, Sujatha Jagadeesh, Kausik Mandal, Padmavathy Narayana Sylaja

المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
JIMD Reports

مصطلحات موضوعية: Research Report, medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Left ventricular hypertrophy, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), chronic renal failure, Internal medicine, Genotype, Internal Medicine, Medicine, late onset, Stroke, GLA mutation, Fabry disease, lcsh:RC648-665, business.industry, Hypertrophic cardiomyopathy, Research Reports, Enzyme replacement therapy, hypertrophic cardiomyopathy, medicine.disease, stroke, lcsh:Genetics, Neuropathic pain, Cohort, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3061559a80a32447797f36ae406873ed
https://doi.org/10.1002/jmd2.12156

المؤلفون: Lokesh Lingappa, Shaik Mohammad Naushad, Akella Radha Rama Devi

المصدر: Pediatric Neurology. 106:43-49

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, India, Cell Cycle Proteins, CC2D2A, Ciliopathies, Retina, Joubert syndrome, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Antigens, Neoplasm, Cerebellum, Prenatal Diagnosis, 030225 pediatrics, Exome Sequencing, INPP5E, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Oculomotor apraxia, Child, Polydactyly, business.industry, Infant, Kidney Diseases, Cystic, medicine.disease, eye diseases, Hypotonia, Pedigree, Cytoskeletal Proteins, Ciliopathy, Phenotype, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57a5155cbcc4902c62798c8d118056a
https://doi.org/10.1016/j.pediatrneurol.2020.01.012

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.