المؤلفون: Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)

مصطلحات موضوعية: abnormaliy, failure of Meiosis II, HORMAD2, Meiosis, recurrent miscarriage, triploid digynic, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/5643f311622043daa83507010d712958

المؤلفون: Beena Suresh, Umarani Ravichandran, Sujatha Jagadeesh

المصدر: Journal of Clinical and Diagnostic Research, Vol 17, Iss 12, Pp 01-03 (2023)

مصطلحات موضوعية: anaemia, heterozygous carrier, molecular testing, prenatal testing, Medicine

وصف الملف: electronic resource

Relation: https://www.jcdr.net/articles/PDF/18819/67494_CE[Ra1]_F(SL)_QC(KK_RDW_SHU)_PF1(VD_KM_OM)_PFA(VD_KM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

URL الوصول: https://doaj.org/article/8616ac873cb24ee6aeaa082c3ccb2cb3

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: Tamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Delfien Syx, Sofie Symoens, Yannick Gansemans, Filip Van Nieuwerburgh, Sujatha Jagadeesh, Jayarekha Raja, Fransiska Malfait, Paul J. Coucke, Adelbert De Clercq, Andy Willaert

المصدر: Human Genetics. 142:457-476

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ab667fa424d568fc89cc295559e8e95d
https://doi.org/10.1007/s00439-022-02518-w

المؤلفون: Reetika Malik Yadav, Maya Gupta, Aparna Dalvi, Umair Ahmed Bargir, Gouri Hule, Snehal Shabrish, Jahnavi Aluri, Manasi Kulkarni, Priyanka Kambli, Ramya Uppuluri, Suresh Seshadri, Sujatha Jagadeesh, Beena Suresh, Jayarekha Raja, Prasad Taur, Sivasankar Malaischamy, Priyanka Ghosh, Shweta Mahalingam, Priya Kadam, Harsha Prasada Lashkari, Parag Tamhankar, Vasundhara Tamhankar, Shilpa Mithbawkar, Sagar Bhattad, Prerna Jhawar, Adinarayan Makam, Vandana Bansal, Malathi Prasad, Geeta Govindaraj, Beena Guhan, Karthik Bharadwaj Tallapaka, Mukesh Desai, Revathi Raj, Manisha Rajan Madkaikar

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: prenatal diagnosis, chorionic villus sampling, maternal contamination, cordocentesis, flow cytometry, variants of unknown significance, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2020.612316/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/6a8ad79b624d4b21a0987ecfc475eba9

المؤلفون: Gabrielle N. Kennedy, Brenna N. Walton, Neveen A. Soliman, Dawn S. Milliner, Sarah R. Senum, Lada Beara-Lasic, Laura M. Reynolds, David J. Sas, Jennifer Arroyo, Andrea G. Cogal, Peter C. Harris, David S. Goldfarb, Ronak Jagdeep Shah, Stephen B. Erickson, Barbara M. Seide, Sujatha Jagadeesh, John C. Lieske, Kalina J. Reese, Vidar O. Edvardsson, Michelle A. Baum, Runolfur Palsson

المصدر: Kidney International Reports

مصطلحات موضوعية: Genetics, medicine.medical_specialty, education.field_of_study, business.industry, kidney stones, Population, Dent Disease, medicine.disease, Genetic analysis, Primary hyperoxaluria, Nephrology, Clinical Research, Molecular genetics, monogenic, molecular genetics, medicine, Medical genetics, Copy-number variation, business, education, primary hyperoxaluria, Gene, Dent disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ec313df6277a891202bf313a40871b
http://europepmc.org/articles/PMC8589729

المؤلفون: Madhulika Kabra, Ratna Dua Puri, Ishwar C. Verma, Sheela Nampoothiri, Katta M. Girisha, Neerja Gupta, Ishpreet K. Biji, Priya S. Kishnani, Mamta N. Muranjan, Sujatha Jagadeesh, N Vinu, Jyotsna Verma, Jayarekha Raja, Ravinder Makkar, Divya C. Thomas, Nitika Setia, Meenakshi Bhat

المصدر: Neuromuscular Disorders. 31:431-441

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Cardiomyopathy, India, Late onset, Disease, Compound heterozygosity, Left ventricular hypertrophy, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Child, Genetics (clinical), Retrospective Studies, Glycogen Storage Disease Type II, business.industry, Homozygote, Muscle weakness, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, RNA Splice Sites, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6199f44a124c02bf605eb42732602b
https://doi.org/10.1016/j.nmd.2021.02.013

المؤلفون: Maryam Rezaei, Sujatha Jagadeesh, Majid Fardaei, Eric Bereke, JianHua Qian, Reda Hemida, Rima Slim, Monica Aguinaga, Zahra Hadipour, Rashmi Bagga, Jacek Majewski, B. Suresh

المصدر: Clinical Genetics. 99:823-828

مصطلحات موضوعية: 0301 basic medicine, Infertility, Fetus, business.industry, Silver–Russell syndrome, Trophoblast, 030105 genetics & heredity, medicine.disease, Bioinformatics, NLRP7, Placental Mesenchymal Dysplasia, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Genetics, Etiology, Medicine, business, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b8caacec98ca8b97592f61bb61a52fd1
https://doi.org/10.1111/cge.13941

المؤلفون: B. Suresh, Rashmi Dongerdiye, Prabhakar Kedar, Sujatha Jagadeesh, Rati Devendra, Aruna Rajendran, Prashant Warang

المصدر: Journal of Clinical Pathology. 74:620-624

مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, Hexokinase, Mutation, Anemia, General Medicine, 030105 genetics & heredity, Biology, medicine.disease, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, chemistry.chemical_compound, Hexokinase deficiency, 030104 developmental biology, chemistry, medicine, Glycolysis, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f9f5fb7ae24764eb26d2c8a17618977c
https://doi.org/10.1136/jclinpath-2020-206960

المؤلفون: Kavitha Bhat, Meenal Agarwal, Tushar Godbole, Ahila Ayyavoo, Vaman Khadilkar, Neerja Gupta, Devi Dayal, Rahul Jahagirdar, Rajesh Kumar, Archana Arya Dayal, Sadishkumar Kamalanathan, Nikhil Lohiya, Nikhil Phadke, Kavita Khatod, Sujatha Jagadeesh, Shatakshi Ranade, Karthik Ganesan, Priyanka Gangodkar, Rashmi Lote Oke, P Raghupathy, Anuradha Khadilkar

المصدر: Endocrine. 71:189-198

مصطلحات موضوعية: Proband, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, Endocrinology, Diabetes and Metabolism, India, 030209 endocrinology & metabolism, Biology, urologic and male genital diseases, medicine.disease_cause, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Humans, Multiplex, Congenital adrenal hyperplasia, Multiplex ligation-dependent probe amplification, Netherlands, Mutation, Adrenal Hyperplasia, Congenital, 21-Hydroxylase, High-Throughput Nucleotide Sequencing, Amplicon, medicine.disease, Molecular biology, 030220 oncology & carcinogenesis, biology.protein, Steroid 21-Hydroxylase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8363372841a1f472738385d94d412f
https://doi.org/10.1007/s12020-020-02494-z