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1دورية أكاديمية
المؤلفون: Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
مصطلحات موضوعية: Lysosomal storage disorders, smMIP probes, Dried blood spot, Diagnostic yield, Cost effective, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
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2دورية أكاديمية
المؤلفون: Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
المصدر: JIMD Reports, Vol 65, Iss 2, Pp 85-101 (2024)
مصطلحات موضوعية: adult‐onset LSDs, Fabry disease, Gaucher disease, p.Leu483pro, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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3دورية أكاديمية
المؤلفون: Jayesh Sheth, Harsh Sheth, Frenny Sheth, Bittianda Kuttapa Thelma, Madhvi Joshi, Inderjeet Kaur, Chaitanya Joshi
المصدر: The Lancet Regional Health - Southeast Asia, Vol 23, Iss , Pp 100373- (2024)
مصطلحات موضوعية: Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh Sheth
المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
مصطلحات موضوعية: Autism spectrum disorder, Genetic etiology, Diagnostic yield, Chromosomal microarray, Whole exome sequencing, De novo, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2377
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5دورية أكاديمية
المؤلفون: Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth
المصدر: JIMD Reports, Vol 64, Iss 4, Pp 265-273 (2023)
مصطلحات موضوعية: case report, gait, MLD, prosaposin, smMIP‐NGS, tremors, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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6دورية أكاديمية
المؤلفون: Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth
المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Multiple sulfatase deficiency, FGE, SUMF1, Ichthyosis, Case report, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2431
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7دورية أكاديمية
المؤلفون: Ehsan Ulhaq, Febin Huda, C Suhail, Harsh Sheth, R I Anu
المصدر: Cancer Research, Statistics, and Treatment, Vol 6, Iss 2, Pp 239-247 (2023)
مصطلحات موضوعية: cancer genetics, familial cancer genes, hereditary cancers, pedigree analysis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Frenny Sheth, Jhanvi Shah, Ketan Patel, Darshan Patel, Deepika Jain, Jayesh Sheth, Harsh Sheth
المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Autism spectrum disorder (ASD), Basic helix-loop-helix (bHLH), Congenital cranial dysinnervation disorders (CCDD), Cranial nerves, Loss of function, NEUROG1 gene, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2377
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9دورية أكاديمية
المؤلفون: Pål Møller, Toni Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepisto, Päivi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aída Falcón de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillén-Ponce, Carrie Snyder, Charlotte K. Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette Reece, Joanne Ngeow, Jose G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J. Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija R. J. Kohonen-Corish, Marjolijn J. L. Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N. Zahary, N. Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J. Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Dębniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldés, Tatsuro Yamaguchi, Verónica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Jürgen Weitz, Silke Redler, Reinhard Büttner, Vincent Heuveline, John L. Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Sanne W. ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Dueñas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J. Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernán Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Mark A. Jenkins, The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)
المصدر: Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Lynch Syndrome, Epidemiology, Prevention, Penetrance, Colorectal cancer, Segregation analysis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1897-4287
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10دورية أكاديمية
المؤلفون: Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth
المصدر: BMC Genomics, Vol 23, Iss 1, Pp 1-15 (2022)
مصطلحات موضوعية: Mucopolysaccharidosis IVA (MPS IVA), Morquio A syndrome, GALNS, Founder variant, p.P77R, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2164