학술논문
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'학술논문'
에서 검색결과 421건 | 목록
1~20
Academic Journal
Pagnamenta, Alistair T.; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P.; Toosi, Mehran B.; Calder, Alistair D.; Karimiani, Ehsan G.; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina, 1969; Lester, Tracy; Maroofian, Reza; Heath, Karen E.; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C.
Journal of Medical Genetics. 59(10):947-950
Academic Journal
Rebecca Buchert; Martin D. Burkhalter; Chrisovalantou Huridou; Linda Sofan; Timo Roser; Kirsten Cremer; Javeria Raza Alvi; Stephanie Efthymiou; Tawfiq Froukh; Sughra Gulieva; Ulviyya Guliyeva; Moath Hamdallah; Muriel Holder-Espinasse; Rauan Kaiyrzhanov; Doreen Klingler; Mahmoud Koko; Lars Matthies; Joohyun Park; Marc Sturm; Ana Velic; Stephanie Spranger; Tipu Sultan; Hartmut Engels; Holger Lerche; Henry Houlden; Alistair T. Pagnamenta; Ingo Borggraefe; Yvonne Weber; Penelope E. Bonnen; Reza Maroofian; Olaf Riess; Jonasz J. Weber; Melanie Philipp; Tobias B. Haack
Am J Hum Genet
Academic Journal
Kristiana Gordon; Pia Ostergaard; Sahar Mansour; Holm H Uhlig; Alistair T Pagnamenta; Angela Davies; Sara E Dobbins; Ruby Moy; Alexandra J Noble; Emma Fowler; Helena G Karstensen; Christoffer Valdemar Nissen; Bitten Schönewolf-Greulich; Malene Djursby; Silvia Martin-Almedina
BMJ Connections. Clinical Genetics and Genomics, Vol 2, Iss 1 (2025)
Academic Journal
Prasun Dutta; Alistair T. Pagnamenta; Christelle Robert; Anthony E. F. McGuigan; Alison Ross; Edward S. Tobias; Ruth McGowan; Morad Ansari; David Baty; Jonathan Berg; Therese Bradley; Vera Cerqueira; Austin Diamond; Mihail Halachev; Anne Lampe; Alison Meynert; Caitlin Newman; Marian Thomson; Urmi Trivedi; Nicola Williams; Jing Yu; Javier Santoyo-Lopez; Zosia Miedzybrodzka; Jenny C. Taylor; Timothy J. Aitman
Academic Journal
Walker, Susan ; Bunyan, David J. ; Thomas, Huw B. ; Kesim, Yesim ; Kershaw, Christopher J. ; Holloway, John ; Wai, Htoo ; Day, Michael ; Smith, Cassandra L. ; Hawkes, Gareth ; Wood, Andrew R. ; Weedon, Michael N. ; Blair, Ed ; Curtis, Stephanie L. ; Fielden, Catherine ; Evans, Julie ; Whittington, Rebecca ; Smithson, Sarah F. ; Cox, Helen ; Clift, Paul ; McEntagart, Meriel ; Prapa, Matina ; Alsters, Suzanne ; Morris-Rosendahl, Deborah ; Dean, John ; Morrison, Patrick J. ; Dixit, Abhijit ; Sarkar, Ajoy ; Prescott, Katrina ; Amel Riazat Kesh, Leila ; Tharakan, Riya ; Turner, Claire ; Ellard, Sian ; Shaw-Smith, Charles ; Fasham, James ; Clowes, Virginia ; Holden, Simon ; Somarathi, Suresh ; Mercer, Catherine ; Berry, Ian ; O’Keefe, Raymond T. ; Banka, Siddharth ; Baralle, Diana ; Thomas, N. Simon ; Baple, Emma L. ; Taylor, Jenny C. ; Pagnamenta, Alistair T.
In Genetics in Medicine September 2025 27(9)
Academic Journal
Alistair T. Pagnamenta; Jing Yu; Susan Walker; Alexandra J. Noble; Jenny Lord; Prasun Dutta; Mona Hashim; Carme Camps; Hannah Green; Smrithi Devaiah; Lina Nashef; Jason Parr; Carl Fratter; Rana Ibnouf Hussein; Sarah J. Lindsay; Fiona Lalloo; Benito Banos-Pinero; David Evans; Lucy Mallin; Adrian Waite; Julie Evans; Andrew Newman; Zoe Allen; Cristina Perez-Becerril; Gavin Ryan; Rachel Hart; John Taylor; Tina Bedenham; Emma Clement; Ed Blair; Eleanor Hay; Francesca Forzano; Jenny Higgs; Natalie Canham; Anirban Majumdar; Meriel McEntagart; Nayana Lahiri; Helen Stewart; Sarah Smithson; Eduardo Calpena; Adam Jackson; Siddharth Banka; Hannah Titheradge; Ruth McGowan; Julia Rankin; Charles Shaw-Smith; D. Gareth Evans; George J. Burghel; Miriam J. Smith; Emily Anderson; Rajesh Madhu; Helen Firth; Sian Ellard; Paul Brennan; Claire Anderson; Doug Taupin; Mark T. Rogers; Jackie A. Cook; Miranda Durkie; James E. East; Darren Fowler; Louise Wilson; Rebecca Igbokwe; Alice Gardham; Ian Tomlinson; Diana Baralle; Holm H. Uhlig; Jenny C. Taylor
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Pagnamenta , A T , Walker, S, Noble, A J, Lord, J, Dutta, P, Hashim, M, Camps, C, Green, H, Devaiah, S, Nashef, L, Parr, J, Fratter, C, Ibnouf Hussein, R, Lalloo, F, Waite, A, Evans, J, Allen, Z, Perez-Becerril, C, Hart, R, Taylor, J, Bedenham, T , Clement, E, Blair, E, Hay, E, Forzano, F, Canham, N, Majumdar, A, McEntagart, M, Lahiri, N, Stewart, H, Calpena, E, Jackson, A, Banka, S, Titheradge, H, McGowan, R, Rankin, J, Shaw-Smith, C, Evans, D G, Burghel, G J, Smith, M J, Anderson, E, Madhu, R, Firth, H, Ellard, S, Brennan, P, Taupin, D, Rogers, M T , Cook, J A, Durkie, M, East, J E, Fowler, D, Wilson, L, Igbokwe, R, Gardham, A, Tomlinson, I, Baralle, D, Uhlig, H H & Taylor, J C 2024, 'The impact of inversions across 33,924 families with rare disease from a national genome sequencing project', American Journal of Human Genetics, vol. 111, no. 6, pp. 1140-1164. https://doi.org/10.1016/j.ajhg.2024.04.018
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Academic Journal
Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F.; Jacobsen, Julius O. B.; Arno, Gavin; Behr, Elijah R.; Benson, Katherine A.; Bertoli, Marta; Bockenhauer, Detlef; Bowl, Michael R.; Burley, Kate; Chan, Li F.; Chinnery, Patrick; Conlon, Peter J.; Costa, Marcos A.; Davidson, Alice E.; Dawson, Sally J.; Elhassan, Elhussein A. E.; Flanagan, Sarah E.; Futema, Marta; Gale, Daniel P.; García-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R.; Hambleton, Sophie; Hicks, Amy R.; Houlden, Henry; Houlston, Richard S.; Howles, Sarah A.; Kleta, Robert; Lekkerkerker, Iris; Lin, Siying; Liskova, Petra; Mitchison, Hannah H.; Morsy, Heba; Mumford, Andrew D.; Newman, William G.; Neatu, Ruxandra; O’Toole, Edel A.; Ong, Albert C. M.; Pagnamenta, Alistair T.; Rahman, Shamima; Rajan, Neil; Robinson, Peter N.; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A.; Shovlin, Claire L.; Taylor, Jenny C.; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; Turnbull, Clare; van Eerde, Albertien M.; Ware, James S.; Watts, Laura M.; Webster, Andrew R.; Westbury, Sarah K.; Zheng, Sean L.; Caulfield, Mark; Smedley, Damian
Nature: International weekly journal of science. :1-9
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
Academic Journal
Reza Maroofian; Payam Sarraf; Thomas J O’Brien; Mona Kamel; Arman Cakar; Nour Elkhateeb; Tracy Lau; Siddaramappa Jagdish Patil; Christopher J Record; Alejandro Horga; Miriam Essid; Laila Selim; Hanene Benrhouma; Thouraya Ben Younes; Giovanni Zifarelli; Alistair T Pagnamenta; Peter Bauer; Mukhran Khundadze; Andrea Mirecki; Sara Mahmoud Kamel; Mohamed A Elmonem; Ehsan Ghayoor Karimiani; Yalda Jamshidi; Amaka C Offiah; Alexander M Rossor; Ilhem Ben Youssef-Turki; Christian A Hübner; Pinki Munot; Mary M Reilly; André E X Brown; Sara Nagy; Henry Houlden
Brain
Academic Journal
Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner
Am. J. Hum. Genet. 111, 96-118 (2024)
Academic Journal
Ralf A Husain; Xinfu Jiao; J Christopher Hennings; Jan Giesecke; Geeta Palsule; Stefanie Beck-Wödl; Dina Osmanović; Kathrine Bjørgo; Asif Mir; Muhammad Ilyas; Saad M Abbasi; Stephanie Efthymiou; Natalia Dominik; Reza Maroofian; Henry Houlden; Julia Rankin; Alistair T Pagnamenta; Marwan Nashabat; Waleed Altwaijri; Majid Alfadhel; Muhammad Umair; Ebtissal Khouj; William Reardon; Ayman W El-Hattab; Mohammed Mekki; Gunnar Houge; Christian Beetz; Peter Bauer; Audrey Putoux; Gaetan Lesca; Damien Sanlaville; Fowzan S Alkuraya; Robert W Taylor; Hans-Joachim Mentzel; Christian A Hübner; Peter Huppke; Ronald P Hart; Tobias B Haack; Megerditch Kiledjian; Ignacio Rubio
Brain. 147:1197-1205
Academic Journal
Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M.; Bell, Katrina M.; Wakeling, Matthew N.; Mallin, Lucy J.; Shah, Alex; de Silva, Michelle G.; Francis, David I.; Walsh, Maie; Jones, Emily E.; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H.; Naude, Johann Te Water; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H.; Tofaris, George K.; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S.; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S.; Bamford, Rosemary A.; Jeffries, Aaron R.; Lord, Jenny; Walker, Susan; van Ham, Tjakko J.; Hill, Sue L.; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H.; Baple, Emma L.; Pagnamenta, Alistair T.
Academic Journal
Maroofian, Reza ; Pagnamenta, Alistair T. ; Navabazam, Alireza ; Schwessinger, Ron ; Roberts, Hannah E. ; Lopopolo, Maria ; Dehghani, Mohammadreza ; Vahidi Mehrjardi, Mohammad Yahya ; Haerian, Alireza ; Soltanianzadeh, Mojtaba ; Noori Kooshki, Mohammad Hadi ; Knight, Samantha J.L. ; Miller, Kerry A. ; McGowan, Simon J. ; Chatron, Nicolas ; Timberlake, Andrew T. ; Melo, Uirá Souto ; Mundlos, Stefan ; Buck, David ; Twigg, Stephen R.F. ; Taylor, Jenny C. ; Wilkie, Andrew O.M. ; Calpena, Eduardo
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Academic Journal
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Åse K.; Caiella, Alessia; Glomnes, Nina; Brønstad, Kirsten M.; Tury, Sandrine; Moreno De Luca, Andrés; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; İpek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da’as, Sahar I.; Fakhro, Khalid A.; Gómez-Pascual, Alicia; Botía, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gaël; Arnesen, Thomas; Houlden, Henry
Nature Communications. 15(1)
Academic Journal
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea A. Weiss; Christina A. Gurnett; Anne Marie Jelsig; Susanne H. Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair T. Pagnamenta; Simone Race; Siddharth Srivastava; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda M. Reis; Elena V. Semina; Miriam S. Reuter; Stephen W. Scherer; Maria Iascone; Denisa Weis; Christina R. Fagerberg; Charlotte Brasch-Andersen; Lars Kjaersgaard Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias B. Haack; Despoina C. Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas R. Janecke; Tzung-Chien Hsieh; Hellen Lesmann; Hannah Klinkhammer; Peter M. Krawitz; Johannes R. Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M,Pagnamenta , A T , Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T -C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M,
Academic Journal
Stephanie Efthymiou; Luiz E. Novis; Georgios Koutsis; Chrysoula Koniari; Reza Maroofian; Valentina Turchetti; Georgios Velonakis; Luiz F. Vasconcellos; Salmo Raskin; Varunvenkat M. Srinivasan; Alistair T. Pagnamenta; Yaramanchanahalli B. Arun; Uddhava V. Kinhal; Vykuntaraju K. Gowda; Helio A. G. Teive; Henry Houlden
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023)
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023)
Academic Journal
Ruizhi Deng; Eva Medico-Salsench; Anita Nikoncuk; Reshmi Ramakrishnan; Kristina Lanko; Nikolas A. Kühn; Herma C. van der Linde; Sarah Lor-Zade; Fatimah Albuainain; Yuwei Shi; Soheil Yousefi; Ivan Capo; Evita Medici van den Herik; Marjon van Slegtenhorst; Rick van Minkelen; Geert Geeven; Monique T. Mulder; George J. G. Ruijter; Dieter Lütjohann; Edwin H. Jacobs; Henry Houlden; Alistair T. Pagnamenta; Kay Metcalfe; Adam Jackson; Siddharth Banka; Lenika De Simone; Abigail Schwaede; Nancy Kuntz; Timothy Blake Palculict; Safdar Abbas; Muhammad Umair; Mohammed AlMuhaizea; Dilek Colak; Hanan AlQudairy; Maysoon Alsagob; Catarina Pereira; Roberta Trunzo; Vasiliki Karageorgou; Aida M. Bertoli-Avella; Peter Bauer; Arjan Bouman; Lies H. Hoefsloot; Tjakko J. van Ham; Mahmoud Issa; Maha S. Zaki; Joseph G. Gleeson; Rob Willemsen; Namik Kaya; Stefan T. Arold; Reza Maroofian; Leslie E. Sanderson; Tahsin Stefan Barakat
Acta Neuropathol
AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, MT , Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta , A T , Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, 'AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368. https://doi.org/10.1007/s00401-023-02579-9, https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathol.
AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M
Acta Neuropathol.
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[검색어] Alistair T. Pagnamenta
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