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: Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: TBCD, FGG, Exome sequencing, Cerebral atrophy, Hypofibrinogenemia, Blended phenotypes, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0597-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/5aac8208af6a443a87676269f0219ec9

المؤلفون: Ana Monteiro, Praveen V. Pavithran, Manuprasad Puthukulangara, Nisha Bhavani, Sheela Nampoothiri, Dhanya Yesodharan, Reshma Kumaran

المصدر: Hormones. 22:311-320

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4ff581e916d7c6a8569527bb69b0340d
https://doi.org/10.1007/s42000-023-00445-7

المؤلفون: Tess Holling, Sheela Nampoothiri, Bedirhan Tarhan, Pauline E. Schneeberger, Kollencheri Puthenveettil Vinayan, Dhanya Yesodharan, Arun Grace Roy, Periyasamy Radhakrishnan, Malik Alawi, Lindsay Rhodes, Katta Mohan Girisha, Peter B. Kang, Kerstin Kutsche

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Peripheral neuropathies, Symporters, Genetics research, Sodium, Genetics, Biotin, Humans, Membrane Transport Proteins, Vitamins, Article, Pantothenic Acid, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce1e082a9184c3d91a3a3e392a6495cb
https://doi.org/10.1038/s41431-021-01033-2

المؤلفون: Donata Orioli, Maria Accadia, Anja Raams, Sarah Giachetti, Sigrid M.A. Swagemakers, Wim Vermeulen, Dhanya Yesodharan, Arjan F. Theil, Giuseppina Caligiuri, Elena Botta, Alan R. Lehmann, Desirée E.C. Smith, Tomoo Ogi, Marisa I. Mendes, Sheela Nampoothiri, Silvia Bione, Gajja S. Salomons, Anita Lombardi, Peter J. van der Spek, Jan H.J. Hoeijmakers

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Molecular Genetics, Pathology, Laboratory Genetic Metabolic Diseases, ANS - Amsterdam Neuroscience

المصدر: Human Molecular Genetics, 30(18), 1711-1720. Oxford University Press
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Premature aging, Trichothiodystrophy, Methionine-tRNA Ligase, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Transcription (biology), Enzyme Stability, Gene expression, Genetics, medicine, Humans, Trichothiodystrophy Syndromes, Child, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Whole Genome Sequencing, Alanine-tRNA Ligase, Translation (biology), General Medicine, medicine.disease, Female, General Article, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80ac1532350b23f224d8cc845fca680
http://www.scopus.com/inward/record.url?scp=85115957950&partnerID=8YFLogxK

المؤلفون: Sheela Nampoothiri, Jeanne Maria Dsouza, Dhanya Yesodharan, Katta M. Girisha, Malini Eapen, Sajitha Sivasankaran Nair, Bhanu Vikraman Pillai, Periyasamy Radhakrishnan

المصدر: Clinical Genetics. 103:369-370

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bef15ce26f921c5efba2d23d151f7f2
https://doi.org/10.1111/cge.14263

المؤلفون: Dhanya Yesodharan, Thomas Müller, Andreas R. Janecke, Pauline E. Schneeberger, Sheela Nampoothiri, Kerstin Kutsche, A. S. Knisely, Barbara Plecko, Tess Holling, Malik Alawi

المصدر: Brain. 144:3036-3049

مصطلحات موضوعية: Male, medicine.medical_specialty, Microcephaly, Endosome, Vesicular Transport Proteins, Endocytic recycling, Transferrin receptor, Postnatal microcephaly, Biology, Neurodevelopmental disorder, EARP complex, Internal medicine, medicine, Humans, Neonatal cholestasis, Alleles, Cells, Cultured, Cholestasis, Infant, Newborn, Genetic Variation, Infant, medicine.disease, Pedigree, Endocrinology, Neurodevelopmental Disorders, Child, Preschool, Neurology (clinical), trans-Golgi Network

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e372d49000358b1a13c9caf5e90a6b86
https://doi.org/10.1093/brain/awab206

المؤلفون: Debasish Kumar Ghosh, Shruti Pande, Jeevan Kumar, Dhanya Yesodharan, Sheela Nampoothiri, Periyasamy Radhakrishnan, Chilakala Gangi Reddy, Akash Ranjan, Katta M. Girisha

المصدر: Aging cell. 21(11)

مصطلحات موضوعية: Male, Aging, Adolescent, Mutation, Laminopathies, Proteostasis, Humans, Aging, Premature, Cell Biology, Lamin Type A

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcdc3faccd6dd92ee84c68141e6e259a
https://pubmed.ncbi.nlm.nih.gov/36225129

المؤلفون: Dhanya Yesodharan, Vivek Krishnan, Indu R. Nair, Sheela Nampoothiri, Ashraf U Mannan, Aparna Ganapathy

المصدر: American Journal of Medical Genetics Part A. 185:620-624

مصطلحات موضوعية: Fetus, Pathology, medicine.medical_specialty, business.industry, Phocomelia, Cenani Lenz syndrome, medicine.disease, Phenotype, CLs upper limits, Genetics, Medicine, business, Perinatal lethal, Renal agenesis, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51453de8df6b0835e1bdd37e3ca19ecb
https://doi.org/10.1002/ajmg.a.61971

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