학술논문
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'학술논문'
에서 검색결과 38건 | 목록
1~20
Academic Journal
Lama Alabdi; Norah Altuwaijri; Jun-yi Zhu; Stephanie Efthymiou; Hangnoh Lee; Jianli Duan; Israa Salem; Piao Yu; Nor Linda Abdullah; Fatema Alzahrani; Qing Xu; Mashael M. Felemban; Abdullah Alfaifi; Fatima Rahman; Marilena Christoforou; Shazia Maqbool; Julian A. Martinez-Agosto; Hessa S. Alsaif; Mais Hashem; Rana Helaby; Ahood Alsulaiman; Reza Maroofian; Henry Houlden; Stefan T. Arold; Leena A. Ibrahim; Zhe Han; Fowzan S. Alkuraya; Stanislav Groppa; Blagovesta Marinova Karashova; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez-Dueñas; Gabriella Di Rosa; Jatinder S. Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda-Marfa; Pierangelo Veggiotti; Michel D. Ferrari; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García-Silva; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; George Koutsis; Marianthi Breza; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Tanya Stojkovic; Massimo Zollo; Gali Heimer; Yves A. Dauvilliers; Pasquale Striano; Issam Al-Khawaja; Fuad Al-Mutairi; Sherifa Ahmed Hamed; Mohamed A. Abd El Hamed; Samson Khachatryan; Ulviyya Guliyeva; Sughra Guliyeva; Kamran Salayev; Georgia Xiromerisiou; Liana Fidani; Cleanthe Spanaki; Mhammed Aguennouz; Gabriella Silvestri; Chingiz Shashkin; Nazira Zharkynbekova; Kairgali Koneyev; Abdullah Al-Ajmi; Shen-Yang Lim; Farooq Shaikh; Mohamed El Khorassani; Arn M.J.M. van den Maagdenberg; Njideka U. Okubadejo; Oluwadamilola O. Ojo; Kolawole Wahab; Abiodun H. Bello; Sanni Abubakar; Yahaya Obiabo; Ernest Nwazor; Oluchi Ekenze; Uduak Williams; Alagoma Iyagba; Lolade Taiwo; Morenikeji Komolafe; Olapeju Oguntunde; Konstantin Senkevich; Ganieva Manizha; Maksud Isrofilov; Erin Torti; Maha Zaki; Hoda Tomoum; Amira Nabil; Paola Nicolaides; Shahzad Haider; Dana Hasbini; Chadi el Alam; Mona Huneineh; Faisal Zafar; Erum Afzal; Ilyas Muhammad; Atchayaram Nalini; Sofia Bakhtaze; Shahid Baig; Ben Issa; Chahnez Triki; Mussa Bassam; Dana Craiou; Meriem Tazir; Lamia Ali Patcha; Nebal Waill Saadi; Hanene Benrhouma; Payam Saraf; Khalid Hama Salih; Awatif
EBioMedicine, Vol 116, Iss , Pp 105725- (2025)
Academic Journal
Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Yanwen Shen; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L. Rippert; Christopher Gray; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V. F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Hatice Koçak Eker; Davut Pehlivan; Jennifer E. Posey; Natalie C. Lippa; Natalie Vena; Erin L. Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M. H. Abdel-Salam; Mohamed S. Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Belen Perez-Duenas; Ana Cazurro-Gutierrez; Edgard Verdura; Veronica Cantarin-Extremera; Ana do Vale Marques; Aleksandra Helwak; David Tollervey; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
Academic Journal
Journal of Islamic International Medical College, Vol 17, Iss 2, Pp 103-107 (2022)
Academic Journal
Khyber Medical University Journal, Vol 13, Iss 4, Pp 197-200 (2021)
Academic Journal
Journal of Rawalpindi Medical College, Vol 27, Iss 1 (2023)
Academic Journal
Erum Afzal; Muhammad Aslam Sheikh; Sajjad Hussain Bhaba; Tanveer Ahmed; Imran Iqbal; Muhammad Khalid Iqbal
Journal of Rawalpindi Medical College, Vol 27, Iss 1 (2023)
Academic Journal
Journal of Rawalpindi Medical College, Vol 25, Iss 3 (2021)
Academic Journal
Journal of Rawalpindi Medical College, Vol 25, Iss 2 (2021)
Academic Journal
Pakistan Journal of Health Sciences. :107-111
Academic Journal
Biological and Clinical Sciences Research Journal. 6:476-480
Academic Journal
Huw B. Thomas; Leigh A.M. Demain; Alfredo Cabrera-Orefice; Isabelle Schrauwen; Hanan E. Shamseldin; Alessandro Rea; Thashi Bharadwaj; Thomas B. Smith; Monika Oláhová; Kyle Thompson; Langping He; Namanpreet Kaur; Anju Shukla; Musaad Abukhalid; Muhammad Ansar; Sakina Rehman; Saima Riazuddin; Firdous Abdulwahab; Janine M. Smith; Zornitza Stark; Hanifenur Mancilar; Sait Tumer; Fatma N. Esen; Eyyup Uctepe; Vehap Topcu; Ahmet Yesilyurt; Erum Afzal; Mehri Salari; Christopher Carroll; Giovanni Zifarelli; Peter Bauer; Deniz Kor; Fatma D. Bulut; Henry Houlden; Reza Maroofian; Samantha Carrera; Wyatt W. Yue; Kevin J. Munro; Fowzan S. Alkuraya; Peter Jamieson; Zubair M. Ahmed; Suzanne M. Leal; Robert W. Taylor; Ilka Wittig; Raymond T. O’Keefe; William G. Newman
Am J Hum Genet
Demain, L A M, Cabrera-Orefice, A, Schrauwen, I, Shamseldin, H E, Rea, A, Bharadwaj, T, Smith, T B, Oláhová, M, Thompson, K, He, L, Kaur, N, Shukla, A, Abukhalid, M, Ansar, M, Rehman, S, Riazuddin, S, Abdulwahab, F, Smith, J M, Stark, Z, Mancilar, H, Tumer, S, Esen, F N, Uctepe, E, Topcu, V, Yesilyurt, A, Afzal, E, Salari, M, Carroll, C, Zifarelli, G, Bauer, P, Kor, D, Bulut, F D, Houlden, H, Maroofian, R, Carrera, S, Yue, W W, Munro, K J, Alkuraya, F S, Jamieson, P, Ahmed, Z M, Leal, S M, Taylor, R W, Wittig, I & O'Keefe, R T 2025, 'Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency', American Journal of Human Genetics, vol. 112, no. 4, pp. 952-962. https://doi.org/10.1016/j.ajhg.2025.02.005
Demain, L A M, Cabrera-Orefice, A, Schrauwen, I, Shamseldin, H E, Rea, A, Bharadwaj, T, Smith, T B, Oláhová, M, Thompson, K, He, L, Kaur, N, Shukla, A, Abukhalid, M, Ansar, M, Rehman, S, Riazuddin, S, Abdulwahab, F, Smith, J M, Stark, Z, Mancilar, H, Tumer, S, Esen, F N, Uctepe, E, Topcu, V, Yesilyurt, A, Afzal, E, Salari, M, Carroll, C, Zifarelli, G, Bauer, P, Kor, D, Bulut, F D, Houlden, H, Maroofian, R, Carrera, S, Yue, W W, Munro, K J, Alkuraya, F S, Jamieson, P, Ahmed, Z M, Leal, S M, Taylor, R W, Wittig, I & O'Keefe, R T 2025, 'Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency', American Journal of Human Genetics, vol. 112, no. 4, pp. 952-962. https://doi.org/10.1016/j.ajhg.2025.02.005
Academic Journal
Proceedings of the International Conference of the Learning Sciences. :2197-2200
Academic Journal
Stephanie Efthymiou; Cailyn P Leo; Chenghong Deng; Kejia Zhang; Sheng-Jia Lin; Reza Maroofian; Rauan Kaiyrzhanov; Renee Lin; Irem Karagoz; Annarita Scardamaglia; Daniel Owrang; Valentina Turchetti; Friederike Jahnke; Cassidy Petree; Anna V Derrick; Mark I Rees; Javeria Raza Alvi; Tipu Sultan; Chumei Li; Marie-Line Jacquemont; Frederic Tran-Mau-Them; Maria Valenzuela-Palafoll; Rich Sidlow; Grace Yoon; Michelle Morrow; Alexis Carere; Mary O’Connor; Julie Fleischer; Erica H Gerkes; Chanika Phornphutkul; Bertrand Isidor; Clotilde Rivier-Ringenbach; Christophe Philippe; Semra H Kurul; Didem Soydemir; Bulent Kara; Deniz Sunnetci-Akkoyunlu; Viktoria Bothe; Konrad Platzer; Dagmar Wieczorek; Margarete Koch-Hogrebe; Nils Rahner; Ann-Charlotte Thuresson; Hans Matsson; Carina Frykholm; Sevcan Tuğ Bozdoğan; Atıl Bişgin; Nicolas Chatron; Gaetan Lesca; Sara Cabet; Zeynep Tümer; Tina D Hjortshøj; Gitte Rønde; Thorsten Marquardt; Janine Reunert; Erum Afzal; Mina Zamani; Reza Azizimalamiri; Hamid Galehdari; Pardis Nourbakhshd; Niloofar Chamanrou; Seo-Kyung Chung; Mohnish Suri; Paul J Benke; Maha S Zaki; Joseph G Gleeson; Daniel G Calame; Davut Pehlivan; Halil I Yilmaz; Alper Gezdirici; Aboulfazl Rad; Iman Sabri Abumansour; Gabriela Oprea; Jai Sidpra; Kshitij Mankad; Barbara Vona; Andrew E Fry; Gaurav K Varshney; Henry Houlden; Dragony Fu
Academic Journal
Elisa Calì; Sheng-Jia Lin; Clarissa Rocca; Yavuz Sahin; Aisha Al Shamsi; Salima El Chehadeh; Myriam Chaabouni; Kshitij Mankad; Evangelia Galanaki; Stephanie Efthymiou; Sniya Sudhakar; Alkyoni Athanasiou-Fragkouli; Tamer Çelik; Nejat Narlı; Sebastiano Bianca; David Murphy; Francisco Martins De Carvalho Moreira; Michael G. Hannah; Enrico Bugiardini; Yamna Kriouile; Mohamed El Khorassani; Mhammed Aguennouz; Stanislav Groppa; Blagovesta Marinova Karashova; Gabriella Di Rosa; Jatinder S. Goraya; Tipu Sultan; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Pierangelo Veggiotti; Alberto Verrotti; Salvatore Savasta; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Savvas Papacostas; Chiara Compagnoni; Alessandra Piccirilli; Michail Vikelis; Viorica Chelban; Rauan Kaiyrzhanov; Andrea Cortese; Roisin Sullivan; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; Shen-Yang Lim; Farooq Shaikh; Annarita Scardamaglia; George Koutsis; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Massimo Zollo; Gali Heimer; Pasquale Striano; Issam Al-Khawaja; Fuad Al-Mutairi; Fowzan S. Alkuraya; Mie Rizig; Chingiz Shashkin; Nazira Zharkynbekova; Kairgali Koneyev; Ganieva Manizha; Maksud Isrofilov; Ulviyya Guliyeva; Kamran Salayev; Samson Khachatryan; Georgia Xiromerisiou; Cleanthe Spanaki; Arianna Tucci; Chiara Fiorillo; Federico Rissotto; Francina Munell; Antonella Gagliano; Farida Jan; Roberto Chimenz; Eloisa Gitto; Caterina Cuppari; Carmelo Romeo; Francesca Magrinelli; Neerja Gupta; Madhulika Kabra; Hanene Benrhouma; Meriem Tazir; Luca Zagaroli; Claudia Caloisi; Cecilia Fabiano; Gabriella Bottone; Giovanni Farello; Sandra Di Fabio; Makram Obeid; Sophia Bakhtadze; Nebal W. Saadi; Maha S. Zaki; Chahnez C. Triki; Majdi Kara; Vincenzo Belcastro; Nicola Specchio; Ehsan G. Karimiani; Ahmed M. Salih; Luca A. Ramenghi; Emanuele David; Riccardo Curró; Maria Laura Iezzi; Giulia Iapadre; Giuliana Nanni; Giovanna Scorrano; Maria F. Fiorile; Francesco Brancati; Giovanna Di Falco; Luana Mandarà; Giuseppe Barrano; Maurizio Elia; Gaetano Terrone; Francesca F. Operto; Mariella Valenzise; Ylenia Della Rocca; Francesca Zazzeroni; Edoardo Alesse; Filippo Manti; Serena Galosi; Francesca Nardecchia; Vincenzo Leuzzi; Erica Pironti; Greta Amore; Giorgia Ceravolo; Faisal Zafar; Ehsan Ullah; Erum Afzal; Iram Javed; Fatima Rahman; Muhammad Mehboob Ahmed; Pasquale Parisi; Paola Borgia; Giuseppe D. Mangano; Francesco Chiarelli; Queen Square Genomics; null Andrea Accogli; Cassidy Petree; Kevin Huang; Kamel Monastiri; Masoud Edizadeh; Rosaria Nardello; Marzia Ognibene; Patrizia De Marco; Martino Ruggieri; Federico Zara; Yavuz Şahin; Lihadh Al-Gazali; Marie Therese Abi Warde; Benedicte Gerard; Giovanni Zifarelli; Christian Beetz; Sara Fortuna; Miguel Soler; Enza Maria Valente; Gaurav Varshney; Reza Maroofian; Vincenzo Salpietro; Henry Houlden
Genet Med
Academic Journal
Lydia Green; Noémie Hamilton; Marilena Elpidorou; Reza Maroofian; Andrew G.L. Douglas; Katrin Õunap; Ailsa M.S. Rose; Erica L. Harris; Stone Elworthy; Stephen A. Renshaw; Elizabeth C. Low; David H. Dockrell; Kristian Tveten; Geoffrey Wells; Sarah A. Harris; Almundher Al-Maawali; Khalid Al-Thihli; Sana Al-Zuhaibi; Amna Al Futaisi; Daniel Calame; Ivan Chinn; Kristen S. Fisher; Mario Sa; Daniel Warren; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Tahere Seifi; Maha S. Zaki; Erum Afzal; Mark A. Tarnopolsky; Lauren Brady; Stephan L. Zuchner; Stephanie Efthymiou; Annarita Scardamaglia; Henry Houlden; Emma Wakeling; Prab Prabhakar; Carla Roca-Bayerri; Gillian I. Rice; Clément Prouteau; Céline Bris; Marine Tessarech; Inger Sandvig; Eamonn G. Sheridan; Colin A. Johnson; John H. Livingston; Yanick J. Crow; James A. Poulter
Academic Journal
2022 Fifth International Conference of Women in Data Science at Prince Sultan University (WiDS PSU). :95-99
Academic Journal
Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L Rippert; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V.F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Davut Pehlivan; Jennifer E. Posey; Natalie Lippa; Natalie Vena; Erin L Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M.H. Abdel-Salam; Mohamed Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
Academic Journal
The Professional Medical Journal. 28:1484-1488
Etiology of ambiguous genitalia in newborns with XX karyotype: A cross-sectional observational study
Academic Journal
The Professional Medical Journal. 28:799-803
Academic Journal
The Professional Medical Journal. 28:557-563
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[AR] Erum Afzal
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