학술논문
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'학술논문'
에서 검색결과 734건 | 목록
1~20
Academic Journal
Neonatal Medicine. 30(1):14-19
Academic Journal
Bahl, Ajay ; Seth, Sandeep ; Dhandapany, Perundurai S. ; Mittal, Anupam ; Chockalingam, Priya ; Ahamed, Hisham ; Subramanian, Muthiah ; Nampoothiri, Sheela ; Namboodiri, Narayanan ; Das, Soumi ; Vaidya, Vanya ; Anantharaman, Rajaram ; Khullar, Madhu ; Rani, Deepa Selvi ; Thangaraj, Kumarasamy ; Naik, Nitish ; Sivasubbu, Sridhar ; Roy, Debabrata ; Bang, Vijay Harikisan ; Banerjee, Partha Sarathi ; Chandra Rath, Pratap ; Sinha, Dhurjati Prasad ; Yadav, Rakesh ; Dastidar, Dipankar Ghosh
In Indian Heart Journal May-June 2025 77(3):213-230
Academic Journal
Paschall, Anna ; Koch, Rebecca L. ; Mavis, Alisha M. ; Flores, Leticia S. ; Gupta, Rajan T. ; Jeck, William R. ; de Souza, Carolina Fischinger Moura ; de Oliveira, Bibiana Mello ; Sood, Vikrant ; Alam, Seema ; Porta, Gilda ; Nampoothiri, Sheela ; Gupta, Neerja ; Abdenur, Jose ; Rikhi, Aruna ; Doxey, Jessica ; Muir, Andrew J. ; Kishnani, Priya S.
In Genetics in Medicine Open September 2025
Academic Journal
Adamo, Christin S. ; Beyens, Aude ; Schiavinato, Alvise ; Keene, Douglas R. ; Tufa, Sara F. ; Mörgelin, Matthias ; Brinckmann, Jürgen ; Sasaki, Takako ; Niehoff, Anja ; Dreiner, Maren ; Pottie, Lore ; Muiño-Mosquera, Laura ; Gulec, Elif Yilmaz ; Gezdirici, Alper ; Braghetta, Paola ; Bonaldo, Paolo ; Wagener, Raimund ; Paulsson, Mats ; Bornaun, Helen ; De Rycke, Riet ; De Bruyne, Michiel ; Baeke, Femke ; Devine, Walter P. ; Gangaram, Balram ; Tam, Allison ; Balasubramanian, Meena ; Ellard, Sian ; Moore, Sandra ; Symoens, Sofie ; Shen, Joseph ; Cole, Stacey ; Schwarze, Ulrike ; Holmes, Kathryn W. ; Hayflick, Susan J. ; Wiszniewski, Wojciech ; Nampoothiri, Sheela ; Davis, Elaine C. ; Sakai, Lynn Y. ; Sengle, Gerhard ; Callewaert, Bert
In The American Journal of Human Genetics 1 December 2022 109(12):2230-2252
Academic Journal
Puri, Ratna Dua ; Setia, Nitika ; N, Vinu ; Jagadeesh, Sujatha ; Nampoothiri, Sheela ; Gupta, Neerja ; Muranjan, Mamta ; Bhat, Meenakshi ; Girisha, Katta M ; Kabra, Madhulika ; Verma, Jyotsna ; Thomas, Divya C. ; Biji, Ishpreet ; Raja, Jayarekha ; Makkar, Ravinder ; Verma, Ishwar C ; Kishnani, Priya S.
In Neuromuscular Disorders May 2021 31(5):431-441
Academic Journal
Zhang, Li Xin ; Lemire, Gabrielle ; Gonzaga-Jauregui, Claudia ; Molidperee, Sirinart ; Galaz-Montoya, Carolina ; Liu, David S. ; Verloes, Alain ; Shillington, Amelle G. ; Izumi, Kosuke ; Ritter, Alyssa L. ; Keena, Beth ; Zackai, Elaine ; Li, Dong ; Bhoj, Elizabeth ; Tarpinian, Jennifer M. ; Bedoukian, Emma ; Kukolich, Mary K. ; Innes, A. Micheil ; Ediae, Grace U. ; Sawyer, Sarah L. ; Nair, Karippoth Mohandas ; Soumya, Para Chottil ; Subbaraman, Kinattinkara R. ; Probst, Frank J. ; Bassetti, Jennifer A. ; Sutton, Reid V. ; Gibbs, Richard A. ; Brown, Chester ; Boone, Philip M. ; Holm, Ingrid A. ; Tartaglia, Marco ; Ferrero, Giovanni Battista ; Niceta, Marcello ; Dentici, Maria Lisa ; Radio, Francesca Clementina ; Keren, Boris ; Wells, Constance F. ; Coubes, Christine ; Laquerrière, Annie ; Aziza, Jacqueline ; Dubucs, Charlotte ; Nampoothiri, Sheela ; Mowat, David ; Patel, Millan S. ; Bracho, Ana ; Cammarata-Scalisi, Francisco ; Gezdirici, Alper ; Fernandez-Jaen, Alberto ; Hauser, Natalie ; Zarate, Yuri A. ; Bosanko, Katherine A. ; Dieterich, Klaus ; Carey, John C. ; Chong, Jessica X. ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Lee, Brendan H. ; Yang, Xiang-Jiao ; Lupski, James R. ; Campeau, Philippe M.
In Genetics in Medicine August 2020 22(8):1338-1347
Academic Journal
Gupta, Neerja ; Kazi, Zoheb B. ; Nampoothiri, Sheela ; Jagdeesh, Sujatha ; Kabra, Madhulika ; Puri, Ratna Dua ; Muranjan, Mamta ; Kalaivani, Mani ; Rehder, Catherine ; Bali, Deeksha ; Verma, Ishwar C. ; Kishnani, Priya S.
In The Journal of Pediatrics January 2020 216:44-50
Academic Journal
Kazi, Zoheb B. ; Desai, Ankit K. ; Troxler, R. Bradley ; Kronn, David ; Packman, Seymour ; Sabbadini, Marta ; Rizzo, William B. ; Scherer, Katalin ; Abdul-Rahman, Omar ; Tanpaiboon, Pranoot ; Nampoothiri, Sheela ; Gupta, Neerja ; Feigenbaum, Annette ; Niyazov, Dmitriy M. ; Sherry, Langston ; Segel, Reeval ; McVie-Wylie, Alison ; Sung, Crystal ; Joseph, Alexandra M. ; Richards, Susan ; Kishnani, Priya S.
In Genetics in Medicine April 2019 21(4):887-895
Academic Journal
Chang, Hae Ryung ; Cho, Sung Yoon ; Lee, Jae Hoon ; Lee, Eunkyung ; Seo, Jieun ; Lee, Hye Ran ; Cavalcanti, Denise P. ; Mäkitie, Outi ; Valta, Helena ; Girisha, Katta M. ; Lee, Chung ; Neethukrishna, Kausthubham ; Bhavani, Gandham S. ; Shukla, Anju ; Nampoothiri, Sheela ; Phadke, Shubha R. ; Park, Mi Jung ; Ikegawa, Shiro ; Wang, Zheng ; Higgs, Martin R. ; Stewart, Grant S. ; Jung, Eunyoung ; Lee, Myeong-Sok ; Park, Jong Hoon ; Lee, Eun A. ; Kim, Hongtae ; Myung, Kyungjae ; Jeon, Woosung ; Lee, Kyoungyeul ; Kim, Dongsup ; Kim, Ok-Hwa ; Choi, Murim ; Lee, Han-Woong ; Kim, Yonghwan ; Cho, Tae-Joon
In The American Journal of Human Genetics 7 March 2019 104(3):439-453
Academic Journal
Stephen, Joshi ; Maddirevula, Sateesh ; Nampoothiri, Sheela ; Burke, John D. ; Herzog, Matthew ; Shukla, Anju ; Steindl, Katharina ; Eskin, Ascia ; Patil, Siddaramappa J. ; Joset, Pascal ; Lee, Hane ; Garrett, Lisa. J. ; Yokoyama, Tadafumi ; Balanda, Nicholas ; Bodine, Steven P. ; Tolman, Nathanial J. ; Zerfas, Patricia M. ; Zheng, Allison ; Ramantani, Georgia ; Girisha, Katta M. ; Rivas, Cecilia ; Suresh, Pujar V. ; Elkahloun, Abdel ; Alsaif, Hessa S. ; Wakil, Salma M. ; Mahmoud, Laila ; Ali, Rehab ; Prochazkova, Michaela ; Kulkarni, Ashok B. ; Ben-Omran, Tawfeg ; Colak, Dilek ; Morris, H. Douglas ; Rauch, Anita ; Martinez-Agosto, Julian A. ; Nelson, Stanley F. ; Alkuraya, Fowzan S. ; Gahl, William A. ; Malicdan, May Christine V.
In The American Journal of Human Genetics 6 December 2018 103(6):948-967
Academic Journal
Beyens, Aude ; Albuisson, Juliette ; Boel, Annekatrien ; Al-Essa, Mazen ; Al-Manea, Waheed ; Bonnet, Damien ; Bostan, Ozlem ; Boute, Odile ; Busa, Tiffany ; Canham, Nathalie ; Cil, Ergun ; Coucke, Paul J. ; Cousin, Margot A. ; Dasouki, Majed ; De Backer, Julie ; De Paepe, Anne ; De Schepper, Sofie ; De Silva, Deepthi ; Devriendt, Koenraad ; De Wandele, Inge ; Deyle, David R. ; Dietz, Harry ; Dupuis-Girod, Sophie ; Fontenot, Eudice ; Fischer-Zirnsak, Björn ; Gezdirici, Alper ; Ghoumid, Jamal ; Giuliano, Fabienne ; Diéz, Neus Baena ; Haider, Mohammed Z. ; Hardin, Joshua S. ; Jeunemaitre, Xavier ; Klee, Eric W. ; Kornak, Uwe ; Landecho, Manuel F. ; Legrand, Anne ; Loeys, Bart ; Lyonnet, Stanislas ; Michael, Helen ; Moceri, Pamela ; Mohammed, Shehla ; Muiño-Mosquera, Laura ; Nampoothiri, Sheela ; Pichler, Karin ; Prescott, Katrina ; Rajeb, Anna ; Ramos-Arroyo, Maria ; Rossi, Massimiliano ; Salih, Mustafa ; Seidahmed, Mohammed Z. ; Schaefer, Elise ; Steichen-Gersdorf, Elisabeth ; Temel, Sehime ; Uysal, Fahrettin ; Vanhomwegen, Marine ; Van Laer, Lut ; Van Maldergem, Lionel ; Warner, David ; Willaert, Andy ; Collins, Tom R. ; Taylor, Andrea ; Davis, Elaine C. ; Zarate, Yuri ; Callewaert, Bert
In Genetics in Medicine October 2018 20(10):1236-1245
Academic Journal
Sheth, Jayesh; Nair, Aadhira; Sheth, Frenny; Ajagekar, Manali; Dhondekar, Tejasvi; Panigrahi, Inusha; Bavdekar, Ashish; Nampoothiri, Sheela; Datar, Chaitanya; Gandhi, Ajit; Muranjan, Mamta; Kaur, Anupriya; Desai, Manisha; Mistri, Mehul; Patel, Chitra; Naik, Premal; Shah, Maulin; Godbole, Koumudi; Kapoor, Seema; Gupta, Neerja
Academic Journal
Sheth, Jayesh; Nair, Aadhira; Bhavsar, Riddhi; Kamate, Mahesh; Gowda, Vykuntaraju K.; Bavdekar, Ashish; Kadam, Sandeep; Nampoothiri, Sheela; Datar, Chaitanya; Panigrahi, Inusha; Kaur, Anupriya; Shah, Siddharth; Mehta, Sanjeev; Jagadeesan, Sujatha; Suresh, Indrani; Prabha, C. Ratna; Kapoor, Seema; Bajaj, Shruti; Devi, Radha Rama; Prajapati, Ashka; Godbole, Koumudi; Patel, Harsh; Luhar, Zulfiqar; Shah, Raju C.; Iyer, Anand; Bijarnia-Mahay, Sunita; Puri, Ratna; Muranjan, Mamta; Shah, Ami; Magar, Suvarna; Gupta, Neerja; Tayade, Naresh; Kabra, Madhulika; Jalan, Anil; Solanki, Dhaval; Dalal, Ashwin; Sheth, Frenny; Sheth, Harsh
Orphanet Journal of Rare Diseases. January 27, 2026, Vol. 21 Issue 1
Academic Journal
Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco
Annals of Clinical and Translational Neurology. 11(10):2745-2755
Academic Journal
Hormos Salimi Dafsari; Celine Deneubourg; Kritarth Singh; Reza Maroofian; Zita Suprenant; Ay Lin Kho; Neil J Ingham; Karen P Steel; Preethi Sheshadri; Franciska Baur; Lea Hentrich; Birgit Gerisch; Mina Zamani; Cesar Alves; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony E. Lang; Michael Harris; Alice Abdelaleem; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Alireza Sedaghat; Jawaher Zeighami; Daniel Calame; Dana Marafi; Ruizhi Duan; Adrian Boehnke; Gary D. Clark; Jill A. Rosenfeld; Carrie A. Mohila; Dora Steel; Saurabh Chopra; Suvasini Sharma; Nicolai Kohlschmidt; Steffi Patzer; Afshin Saffari; Darius Ebrahimi‐Fakhari; Büşra Eser Çavdartepe; Irene J Chang; Erika Beckman; Renate Peters; Andrew Paul Fennell; Bernice Lo; Luisa Averdunk; Felix Distelmaier; Martina Baethmann; Frances Elmslie; Kairit Joost; Sheela Nampoothiri; Dhanya Yesodharan; Hanna Mandel; Amy Kimball; Antonie D. Kline; Cyril Mignot; Boris Keren; Vincent Laugel; Katrin Õunap; Kalpana Devadathan; Frederique M.C. van Berkestijn; Arpana Silwal; Saskia Koene; Sumit Verma; Mohammed Yousuf Karim; Chahynez Boubidi; Majid Aziz; Gehad ElGhazali; Lauren Mattas; Mohammad Miryounesi; Farzad Hashemi‐Gorji; Shahryar Alavi; Nayereh Nouri; Mehrdad Noruzinia; Saeideh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; Madeleine Joubert; Claire Beneteau; Kyra E. Stuurman; Martina Wilke; Tahsin Stefan Barakat; Homa Tajsharghi; Annarita Scardamaglia; Sadeq Vallian; Semra Hız; Ali Shoeibi; Reza Boostani; Narges Hashemi; Meisam Babaei; Norah Saleh Alsaleh; Julie Porter; Tania Attié‐Bitach; Pauline Marzin; Dorota Wicher; Jessica I. Gold; Elisabeth Schuler; Amna Kashgari; Rakan F. Alanazi; Wafaa Eyaid; Marc Engelen; Mirjam Langeveld; Burkhard Stüve; Yun Li; Gökhan Yigit; Bernd Wollnik; Mariana H.G Monje; Dimitri Krainc; Niccolò E. Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Giovanni Zifarelli; Peter Bauer; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen‐Christoph von Kleist‐Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Rita Carsetti; Carlo Dionisi‐Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Dafsari, H S, Deneubourg, C, Singh, K, Maroofian, R, Suprenant, Z, Kho, A L, Ingham, N J, Steel, K P, Sheshadri, P, Baur, F, Hentrich, L, Gerisch, B, Zamani, M, Alves, C, Siddiqui, A, Dafsari, H S, Salari, M, Lang, A E, Harris, M, Abdelaleem, A, Sadeghian, S, Azizimalamiri, R, Galehdari, H, Shariati, G, Sedaghat, A, Zeighami, J, Calame, D, Marafi, D, Duan, R, Boehnke, A, Clark, G D, Rosenfeld, J A, Mohila, C A, Steel, D, Chopra, S, Sharma, S, Kohlschmidt, N, Patzer, S, Saffari, A, Ebrahimi-Fakhari, D, Çavdartepe, B E, Chang, I J, Beckman, E, Peters, R, Fennell, A P, Lo, B, Averdunk, L, Distelmaier, F, Baethmann, M, Elmslie, F, Joost, K, Nampoothiri, S, Yesodharan, D, Mandel, H, Kimball, A, Kline, A D, Mignot, C, Keren, B, Laugel, V, Õunap, K, Devadathan, K, van Berkestijn, F M C, Silwal, A, Koene, S, Verma, S, Karim, M Y, Boubidi, C, Aziz, M, ElGhazali, G, Mattas, L, Miryounesi, M, Hashemi-Gorji, F, Alavi, S, Nouri, N, Noruzinia, M, Kavousi, S, Kamath, A, Jayawant, S, Saneto, R, Haridy, N A, Kart, P O, Cansu, A, Joubert, M, Beneteau, C, Stuurman, K E, Wilke, M, Barakat, T S, Tajsharghi, H, Scardamaglia, A, Vallian, S, Hız, S, Shoeibi, A, Boostani, R, Hashemi, N, Babaei, M, Alsaleh, N S, Porter, J, Attié-Bitach, T, Marzin, P, Wicher, D, Gold, J I, Schuler, E, Kashgari, A, Alanazi, R F, Eyaid, W, Engelen, M, Langeveld, M, Stüve, B, Li, Y, Yigit, G, Wollnik, B, Monje, M H G, Krainc, D, Mencacci, N E, Bakhtiari, S, Kruer, M, Argilli, E, Sherr, E, Jamshidi, Y, Karimiani, E G, Cheung, Y W S, Karin, I, Zifarelli, G, Bauer, P, Chung, W K, Lupski, J R, Kurian, M A, Dötsch, J, von Kleist-Retzow, J-C, Klopstock, T, Wagner, M, Yip, C, Roos, A, Carsetti, R, Dionisi-Vici, C, Gautel, M, Duchen, M R, Antebi, A, Houlden, H, Fanto, M & Jungbluth, H 2025, 'Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism', Annals of Neurology, vol. 98, no. 5, pp. 932-950. https://doi.org/10.1002/ana.78013
Academic Journal
Kouz, Karim ; Lissewski, Christina ; Spranger, Stephanie ; Mitter, Diana ; Riess, Angelika ; Lopez-Gonzalez, Vanesa ; Lüttgen, Sabine ; Aydin, Hatip ; von Deimling, Florian ; Evers, Christina ; Hahn, Andreas ; Hempel, Maja ; Issa, Ulrike ; Kahlert, Anne-Karin ; Lieb, Adrian ; Villavicencio-Lorini, Pablo ; Ballesta-Martinez, Maria Juliana ; Nampoothiri, Sheela ; Ovens-Raeder, Angela ; Puchmajerová, Alena ; Satanovskij, Robin ; Seidel, Heide ; Unkelbach, Stephan ; Zabel, Bernhard ; Kutsche, Kerstin ; Zenker, Martin
In Genetics in Medicine December 2016 18(12):1226-1234
Academic Journal
Fasaludeen, Alfiya; Jose, Manna; Aswathi, U.; Banerjee, Moinak; Sundaram, Soumya; Radhakrishnan, Ashalatha; Urulangodi, Madhusoodanan; Gupta, Dinesh; Nampoothiri, Sheela; Menon, Ramshekhar N.
Academic Journal
Bidchol, Abdul Mueed ; Dalal, Ashwin ; Trivedi, Rakesh ; Shukla, Anju ; Nampoothiri, Sheela ; Sankar, V.H. ; Danda, Sumita ; Gupta, Neerja ; Kabra, Madhulika ; Hebbar, Shrikiran A. ; Bhat, Ramesh Y. ; Matta, Divya ; Ekbote, Alka V. ; Puri, Ratna Dua ; Phadke, Shubha R. ; Gowrishankar, Kalpana ; Aggarwal, Shagun ; Ranganath, Prajnya ; Sharda, Sheetal ; Kamate, Mahesh ; Datar, Chaitanya A. ; Bhat, Kamalakshi ; Kamath, Nutan ; Shah, Hitesh ; Krishna, Shuba ; Gopinath, Puthiya Mundyat ; Verma, Ishwar C. ; Nagarajaram, H.A. ; Satyamoorthy, Kapaettu ; Girisha, Katta Mohan
In Gene 10 August 2015 567(2):173-181
Academic Journal
Tuz, Karina ; Bachmann-Gagescu, Ruxandra ; O’Day, Diana R. ; Hua, Kiet ; Isabella, Christine R. ; Phelps, Ian G. ; Stolarski, Allan E. ; O’Roak, Brian J. ; Dempsey, Jennifer C. ; Lourenco, Charles ; Alswaid, Abdulrahman ; Bönnemann, Carsten G. ; Medne, Livija ; Nampoothiri, Sheela ; Stark, Zornitza ; Leventer, Richard J. ; Topçu, Meral ; Cansu, Ali ; Jagadeesh, Sujatha ; Done, Stephen ; Ishak, Gisele E. ; Glass, Ian A. ; Shendure, Jay ; Neuhauss, Stephan C.F. ; Haldeman-Englert, Chad R. ; Doherty, Dan ; Ferland, Russell J.
In The American Journal of Human Genetics 2 January 2014 94(1):62-72
Academic Journal
Sheth, Jayesh ; Mistri, Mehul ; Datar, Chaitanya ; Kalane, Umesh ; Patil, Shekhar ; Kamate, Mahesh ; Shah, Harshuti ; Nampoothiri, Sheela ; Gupta, Sarita ; Sheth, Frenny
In Molecular Genetics and Metabolism Reports 2014 1:425-430
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