학술논문
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'학술논문'
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1~20
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
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
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
Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S.J.; Soni, J.P.; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V.; Kamath, Nutan; Shenoy, Rathika D.; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R.; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M.
European Journal of Human Genetics. 33:607-613
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
Indian Heart Journal. 77(3):213-230
Academic Journal
Ollila, Hanna M.; Sharon, Eilon; Lin, Ling; Sinnott-Armstrong, Nasa; Ambati, Aditya; Yogeshwar, Selina M.; Hillary, Ryan P.; Jolanki, Otto; Faraco, Juliette; Einen, Mali; Luo, Guo; Zhang, Jing; Han, Fang; Yan, Han; Dong, Xiao Song; Li, Jing; Zhang, Jun; Hong, Seung-Chul; Kim, Tae Won; Dauvilliers, Yves; Barateau, Lucie; Lammers, Gert Jan; Fronczek, Rolf; Mayer, Geert; Santamaria, Joan; Arnulf, Isabelle; Knudsen-Heier, Stine; Bredahl, May Kristin Lyamouri; Thorsby, Per Medboe; Plazzi, Giuseppe; Pizza, Fabio; Moresco, Monica; Crowe, Catherine; Van den Eeden, Stephen K.; Lecendreux, Michel; Bourgin, Patrice; Kanbayashi, Takashi; Martinez-Orozco, Francisco J.; Peraita-Adrados, Rosa; Beneto, Antonio; Montplaisir, Jacques; Desautels, Alex; Huang, Yu-Shu; FinnGen, Poul Jennum; Jennum, Poul; Nevsimalova, Sona; Kemlink, David; Iranzo, Alex; Overeem, Sebastiaan; Wierzbicka, Aleksandra; Geisler, Peter; Sonka, Karel; Honda, Makoto; Högl, Birgit; Stefani, Ambra; Coelho, Fernando Morgadinho; Mantovani, Vilma; Feketeova, Eva; Wadelius, Mia; Eriksson, Niclas, 1978; Smedje, Hans; Hallberg, Pär, 1974; Hesla, Per Egil; Rye, David; Pelin, Zerrin; Ferini-Strambi, Luigi; Bassetti, Claudio L.; Mathis, Johannes; Khatami, Ramin; Aran, Adi; Nampoothiri, Sheela; Olsson, Tomas; Kockum, Ingrid; Partinen, Markku; Perola, Markus; Kornum, Birgitte R.; Rueger, Sina; Winkelmann, Juliane; Miyagawa, Taku; Toyoda, Hiromi; Khor, Seik-Soon; Shimada, Mihoko; Tokunaga, Katsushi; Rivas, Manuel; Pritchard, Jonathan K.; Risch, Neil; Kutalik, Zoltan; O'Hara, Ruth; Hallmayer, Joachim; Ye, Chun Jimmie; Mignot, Emmanuel J.
Nature Communications. 14
Academic Journal
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah, I; Bennett, James T.; Sahin, Mustafa
Brain. 143(10):2929-2944
Academic Journal
Neonatal Medicine. 30(1):14-19
Academic Journal
Pande, Shruti; Majethia, Purvi; Nair, Karthik; Rao, Lakshmi Priya; Mascarenhas, Selinda; Kaur, Namanpreet; do Rosario, Michelle C.; Neethukrishna, Kausthubham; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Xavier, Sruthy; Kumar, Jeevan; Bhat, Vivekananda; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Yatheesha, B. L.; Patil, Siddaramappa J.; Nampoothiri, Sheela; Kamath, Nutan; Aroor, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie E.; Sharma, Suvasini; Bajaj, Shruti; Sankhyan, Naveen; Siddiqui, Shahyan; Nayak, Shalini S.; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju
European Journal of Human Genetics. 32(10):1291-1298
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
Singh, Swati; Nampoothiri, Sheela; Narayanan, Dhanya Lakshmi; Chaudhry, Chakshu; Salvankar, Sandesh; Girisha, Katta M.
European Journal of Human Genetics. 32(8):1022-1026
Academic Journal
Riley, Lisa G.; Sabui, Subrata; Said, Hamid M.; Niaz, Aram; Girisha, Katta M.; Radhakrishnan, Periyasamy; Nampoothiri, Sheela; Yesodharan, Dhanya; Kilo, Tatjana; Smith, Janine; Wong, Rachel S. H.; Menezes, Manoj P.; Gupta, Sachin; Cooper, Sandra T.; Balasubramaniam, Shanti
European Journal of Human Genetics. 32(8):947-953
Academic Journal
Jayesh Sheth; Aadhira Nair; Frenny Sheth; Manali Ajagekar; Tejasvi Dhondekar; Inusha Panigrahi; Ashish Bavdekar; Sheela Nampoothiri; Chaitanya Datar; Ajit Gandhi; Mamta Muranjan; Anupriya Kaur; Manisha Desai; Mehul Mistri; Chitra Patel; Premal Naik; Maulin Shah; Koumudi Godbole; Seema Kapoor; Neerja Gupta; Sunita Bijarnia-Mahay; Sandeep Kadam; Dhaval Solanki; Soham Desai; Anand Iyer; Ketan Patel; Harsh Patel; Raju C. Shah; Shalmi Mehta; Ruchi Shah; Riddhi Bhavsar; Jhanvi Shah; Mili Pandya; Bhagyadhan Patel; Sudhir Shah; Heli Shah; Shalin Shah; Shruti Bajaj; Siddharth Shah; Nilam Thaker; Umesh Kalane; Mahesh Kamate; Vykunta Raju KN; Naresh Tayade; Sujatha Jagadeesan; Deepika Jain; Mitesh Chandarana; Jitendra Singh; Sanjiv Mehta; Beena Suresh; Harsh Sheth
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Academic Journal
Neonatal medicine, 30(1), pp.14-19 Feb, 2023
Academic Journal
Harms, Frederike L.; Rexach, Jessica Erin; Efthymiou, Stephanie; Aynekin, Busra; Per, Hüseyin; Güleç, Ayten; Nampoothiri, Sheela; Sampaio, Hugo; Sachdev, Rani; Stoeva, Radka; Myers, Kasiani; Pena, Loren D. M.; Kalfa, Theodosia A.; Chard, Marisa; Klassen, Megan; Pries, Megan; Kutsche, Kerstin
European Journal of Human Genetics. 32(5):558-566
Academic Journal
Sheth, Jayesh; Nair, Aadhira; Bhavsar, Riddhi; Godbole, Koumudi; Datar, Chaitanya; Nampoothiri, Sheela; Panigrahi, Inusha; Shah, Heli; Bajaj, Shruti; Tayade, Naresh; Bhardwaj, Naveen; Sheth, Harsh
JIMD Reports. March, 2024, Vol. 65 Issue 2, p85, 17 p.
Academic Journal
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
Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
Academic Journal
Badiger, Vaishnavi Ashok; Nampoothiri, Sheela; Vangara, Meher Mounika; Majethia, Purvi; Girisha, Katta M.; Radhakrishnan, Periyasamy; Shukla, Anju
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
American journal of human genetics, vol 109, iss 12
AMERICAN JOURNAL OF HUMAN GENETICS
AMERICAN JOURNAL OF HUMAN GENETICS
Academic Journal
Singh, Swati; Badiger, Vaishnavi Ashok; Balan, Suma; Nampoothiri, Sheela; Rao, Anand Prahalad; Shah, Hitesh; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Girisha, Katta M.
Clinical Dysmorphology. Oct 01, 2024 33(4):152-159
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