학술논문
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'학술논문'
에서 검색결과 527건 | 목록
1~20
Academic Journal
Shima Zamanian Najafabadi; Zeinab Ghorbanoghli; Zhila Ghaderi; Fariba Afroozan; Ali Talea; Fatemeh Ahangari; Mina Makvand; Hossein Najmabadi; Ariana Kariminejad
Arch Iran Med
Academic Journal
Negar Molaei; Parnian Alagha; Ali Khanbazi; Maryam Beheshtian; Fatemeh Ahangari; Shima Dehdahsi; Mahsa Fadaee; Mehri Ashki; Zhila Ghaderi; Zohreh Elahi; Raheleh Vazehan; Elham Parsimehr; Maryam Mozaffarpour Nouri; Parishad Saei; Khadijeh Noudehi; Fatemeh Fatehi; Shima Zamanian Najafabadi; Ayda Abolhassani; Fariba Afroozan; Hilda Yazdan; Masoumeh Akbari Kelishomi; Maryam Azad; Farshid Parvini; Seyed Mehrdad Kassaee; Mahtab Ramezani; Fariba Zemorshidi; Houman Salimipour; Siamak Abdi; MohammadKazem Bakhshandeh; Afshin Fayyazi; Gholamreza Zamani; Mahmoud Reza Ashrafi; Payman Jamali; Payam Sarraf; Ali Asghar Okhovat; Bahram Haghi Ashtiani; Farzad Fatehi; Parvaneh Karimzadeh; Shahriar Nafissi; Kimia Kahrizi; Ariana Kariminejad; Hossein Najmabadi
Scientific Reports, Vol 15, Iss 1, Pp 1-12 (2025)
Academic Journal
Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
Negar Molaei; Parnian Alagha; Ali Khanbazi; Maryam Beheshtian; Fatemeh Ahangari; Shima Dehdahsi; Mahsa Fadaee; Mehri Ashki; Zhila Ghaderi; Zohreh Elahi; Raheleh Vazehan; Elham Parsimehr; Maryam Mozaffarpour Nouri; Parishad Saei; Khadijeh Noudehi; Fatemeh Fatehi; Shima Zamanian Najafabadi; Ayda Abolhassani; Fariba Afroozan; Hilda Yazdan; Masoumeh Akbari Kelishomi; Maryam Azad; Seyed Mehrdad Kassaee; Mahtab Ramezani; Fariba Zemorshidi; Houman Salimipour; Siamak Abdi; MohammadKazem Bakhshandeh; Afshin Fayyazi; Gholamreza Zamani; Mahmoud Reza Ashrafi; Payman Jamali; Payam Sarraf; Ali Asghar Okhovat; Bahram Haghi Ashtiani; Farzad Fatehi; Parvaneh Karimzadeh; Shahriar Nafissi; Kimia Kahrizi; Ariana Kariminejad; Hossein Najmabadi
Academic Journal
Ariana Kariminejad; Farzaneh Pouya; Fatemeh Ahangari; Saeed Talebi; Fariba Afroozan; Frans W. Verheijen; Hossein Najmabadi; Edwin H. Jacobs
American Journal of Medical Genetics Part A. 197
Academic Journal
Ali Khanbazi; Maryam Beheshtian; Maryam Azad; Masoumeh Akbari Kelishomi; Fariba Afroozan; Fatemeh Fatehi; Khadijeh Noudehi; Shima Zamanian Najafabadi; Mohammadamin Omrani; Haleh Habibi; Maryam Taghdiri; Isa Abdi Rad; Shahriar Nafissi; Aria Jankhah; Hilda Yazdan; Parvaneh Daneshmand; Seyed Hosseinali Saberi; Kimia Kahrizi; Ariana Kariminejad; Hossein Najmabadi
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Academic Journal
Hamed Shahriyari; Mahtab Ramezani; Yalda Nilipour; Ali Asghar Okhovat; Ariana Kariminejad; Leila Aghaghazvini; Farzad Fatehi; Shahriar Nafissi
Neuromuscular Disorders. 35:19-24
Academic Journal
Alagha, Parnian; Molaei, Negar; Beheshtian, Maryam; Ahangari, Fatemeh; Fadaee, Mahsa; Ashki, Mehri; Elahi, Zohreh; Vazehan, Raheleh; Dehdahsi, Shima; Parsimehr, Elham; Nouri, Maryam Mozaffarpour; Saei, Parishad; Noudehi, Khadijeh; Fatehi, Fatemeh; Najafabadi, Shima Zamanian; Yazdan, Hilda; Afroozan, Fariba; Salmani, Banafsheh; Kooshki, Mahdieh; Ghaderi, Armita; Vahidi, Zohreh; Makvand, Mina; Ahmadpour, Atiyeh; Tahmasebivand, Mahsa; Shiuokhi, Elmira; Talebi, Saeed; Zamani, Babak; Shamsabadi, Farhad Mahvelati; Ashtiani, Bahram Haghi; Sarraf, Payam; Habibi, Haleh; Fayyazi, Afshin; Okhovat, Ali Asghar; Ashrafi, Mahmoud Reza; Fatehi, Farzad; Karimzadeh, Parvaneh; Nafissi, Shahriar; Kahrizi, Kimia; Kariminejad, Ariana; Najmabadi, Hossein
Genetics in Medicine Open. 3
Academic Journal
Khanbazi, Ali; Ashrafi, Farzane Zare; Kelishomi, Masoumeh Akbari; Rezvandeh, Raziye Rezvani; Azad, Maryam; Ahangari, Fatemeh; Fadaee, Mahsa; Dehdahsi, Shima; Makvand, Mina; Salmani, Banafsheh; Vahidi, Zohreh; Kooshki, Mahdieh; Shiuokhi, Elmira; Ghaderi, Armita; Tahmasebivand, Mahsa; Afroozan, Fariba; Noudehi, Khadijeh; Fatehi, Fatemeh; Najafabadi, Shima Zamanian; Nafissi, Shahriar; Habibi, Haleh; Taghdiri, Maryam; Ashtiani, Bahram Haghi; Zamani, Gholamreza; Mohsenifar, Fatemeh; Fatehi, Farzad; Bakhshandeh, MohammadKazem; Jamali, Payman; Kahrizi, Kimia; Kariminejad, Ariana; Najmabadi, Hossein
Genetics in Medicine Open. 3
Academic Journal
Molaei, Negar; Alagha, Parnian; Khanbazi, Ali; Beheshtian, Maryam; Ahangari, Fatemeh; Fadaee, Mahsa; Ashki, Mehri; Elahi, Zohreh; Vazehan, Raheleh; Dehdahsi, Shima; Parsimehr, Elham; Nouri, Maryam Mozaffarpour; Saei, Parishad; Noudehi, Khadijeh; Fatehi, Fatemeh; Najafabadi, Shima Zamanian; Afroozan, Fariba; Yazdan, Hilda; Kelishomi, Masoumeh Akbari; Azad, Maryam; Kassaee, Seyed Mehrdad; Ramezani, Mahtab; Zemorshidi, Fariba; Salimipour, Houman; Abdi, Siamak; Bakhshandeh, MohammadKazem; Fayyazi, Afshin; Zamani, Gholamreza; Ashrafi, Mahmoud Reza; Karimzadeh, Parvaneh; Jamali, Payman; Sarraf, Payam; Okhovat, Ali Asghar; Ashtiani, Bahram Haghi; Fatehi, Farzad; Nafissi, Shahriar; Kahrizi, Kimia; Kariminejad, Ariana; Najmabadi, Hossein
Genetics in Medicine Open. 3
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schädlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Gläser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Bönnemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Hülya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie
Nature Communications. 15(1)
Academic Journal
Abolhassani, Ayda; Fattahi, Zohreh; Beheshtian, Maryam; Fadaee, Mahsa; Vazehan, Raheleh; Ahangari, Fatemeh; Dehdahsi, Shima; Faraji Zonooz, Mehrshid; Parsimehr, Elham; Kalhor, Zahra; Peymani, Fatemeh; Mozaffarpour Nouri, Maryam; Babanejad, Mojgan; Noudehi, Khadijeh; Fatehi, Fatemeh; Zamanian Najafabadi, Shima; Afroozan, Fariba; Yazdan, Hilda; Bozorgmehr, Bita; Azarkeivan, Azita; Sadat Mahdavi, Shokouh; Nikuei, Pooneh; Fatehi, Farzad; Jamali, Payman; Ashrafi, Mahmoud Reza; Karimzadeh, Parvaneh; Habibi, Haleh; Kahrizi, Kimia; Nafissi, Shahriar; Kariminejad, Ariana; Najmabadi, Hossein
npj Genomic Medicine. 9(1)
Academic Journal
Hesami, Omid; Ramezani, Mahtab; Ghasemi, Aida; Fatehi, Farzad; Okhovat, Ali Asghar; Ziaadini, Bentolhoda; Kariminejad, Ariana; Nafissi, Shahriar
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Kariminejad, Ariana; Ghaderi-Sohi, Siavash; Hossein-Nejad Nedai, Hamid; Varasteh, Vahid; Moslemi, Ali-Reza; Tajsharghi, Homa
BMC Musculoskeletal Disorders. 17(1):1-5
Academic Journal
Ariana Kariminejad; Siavash Ghaderi‐Sohi; Soheila Gholami; Kimia Najafi; Roxana Kariminejad; Raoul C. M. Hennekam
American Journal of Medical Genetics Part A. 191:370-377
Academic Journal
Alistair T. Pagnamenta; Rebecca S. Belles; Bonnie Anne Salbert; Ingrid M. Wentzensen; Maria J. Guillen Sacoto; Francis Jeshira Reynoso Santos; Alesky Caffo; Matteo Ferla; Benito Banos‐Pinero; Karolina Pawliczak; Mina Makvand; Hossein Najmabadi; Reza Maroofian; Tracy Lester; Ana Lucia Yanez‐Felix; Camilo E. Villarroel‐Cortes; Fan Xia; Khowla Al Fayez; Amal Al Hashem; Deborah Shears; Melita Irving; Amaka C. Offiah; Ariana Kariminejad; Jenny C. Taylor
Clin Genet
Academic Journal
Franziska Paul; Calista Ng; Umar Bin Mohamad Sahari; Shahriar Nafissi; Yalda Nilipoor; Ali Reza Tavasoli; Carine Bonnard; Pui-Mun Wong; Nasrinsadat Nabavizadeh; Umut Altunoğlu; Mehrdad A Estiar; Charles B Majoie; Hane Lee; Stanley F Nelson; Ziv Gan-Or; Guy A Rouleau; Paul P Van Veldhoven; Rami Massie; Raoul C Hennekam; Ariana Kariminejad; Bruno Reversade
Paul, F, Ng, C, Mohamad Sahari, U B, Nafissi, S, Nilipoor, Y, Tavasoli, A R, Bonnard, C, Wong, P-M, Nabavizadeh, N, Altunoğlu, U, Estiar, M A, Majoie, C B, Lee, H, Nelson, S F, Gan-Or, Z, Rouleau, G A, van Veldhoven, P P, Massie, R, Hennekam, R C, Kariminejad , A & Reversade, B 2022, 'RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder', Human Molecular Genetics, vol. 31, no. 21, pp. 3729-3740. https://doi.org/10.1093/hmg/ddac120
Human molecular genetics
Human molecular genetics
Academic Journal
Fatehi, Fatemeh; Ghorbanoghli, Zeinab; Kooshki, Mahdieh; Najafabadi, Shima Zamanian; Noudehi, Khadijeh; Amooian, Sepideh; Taghiloo, Aidin; Makvand, Mina; Najmabadi, Hossein; Kariminejad, Ariana
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