학술논문
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'학술논문'
에서 검색결과 68건 | 목록
1~20
Academic Journal
Michelle M. Morrow; Erin Torti; Bobbi McGivern; Ryan Gates; Mir Reza Bekheirnia; Nasim Bekheirnia; Leandra Folk; Shannon Holtrop; Timothy Blake Palculict; Olivia L. Redlich; Adi Reich; Maria J. Guillen Sacoto; Lisong Shi; Ingrid M. Wentzensen; Kirsty McWalter
HGG Advances, Vol 6, Iss 3, Pp 100426- (2025)
Academic Journal
Byrne, Alicia; Spurdle, Amanda; Palculict, Blake; Coe, Bradley; Deqiong, Ma; Lyon, Elaine; Groopman, Emily; Qian, Emily; Puffenberger, Erik; Riggs, Erin; Couch, Fergus; Maston, Glenn; Dziadzio, Hannah; Harraway, James; Mester, Jessica; Garcia, John; Lerner-Ellis, Jordan; Benson, Katherine; Avello, Kayleigh; McGoldrick, Kelly; Conlin, Laura; Zec, Lauren; Steeves, Marcie; Richardson, Marcy; Lebo, Matt; Kelly, Melissa; Gollob, Michael; Luo, Minjie; Ganapathi, Mythily; Watkins, Nicholas; Niu, Nifang; Sergouniotis, Panagiotis; Bayrak-Toydemir, Pinar; Schmidt, Ryan; Schilit, Samantha; Richards, Sarah; Pesaran, Tina; Pollin, Toni; Jobanputra, Vaidehi; Zhang, Wenying; Chen, Wuyan; Fan, Yuxin; Schmidt, Ryan J. ; Benson, Katherine A. ; Coe, Bradley P. ; Conlin, Laura K. ; Gollob, Michael H. ; Ma, Deqiong ; Palculict, T. Blake ; Pollin, Toni I. ; Rehm, Heidi L. ; Riggs, Erin R. ; Schilit, Samantha L.P. ; Sergouniotis, Panagiotis I. ; Tvrdik, Tatiana ; Lebo, Matthew S.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Reza Maroofian; Rauan Kaiyrzhanov; Elisa Calì; Mina Zamani; Maha S. Zaki; Matteo P. Ferla; Domenico Tortora; Saeid Sadeghian; Saadia Maryam Saadi; Uzma Abdullah; Ehsan Ghayoor Karimiani; Stéphanie Efthymiou; Gözde Yeşil; Shahryar Alavi; Aisha M. Al Shamsi; Homa Tajsharghi; Mohamed S. Abdel‐Hamid; Nebal Waill Saadi; Fuad Al Mutairi; Lama AlAbdi; Christian Beetz; Zafar Ali; Mehran Beiraghi Toosi; Sabine Rudnik‐Schöneborn; Meisam Babaei; Pirjo Isohanni; Jameel Muhammad; Sheraz Khan; Maha Al Shalan; Scott E. Hickey; Daphna Marom; Emil Elhanan; Manju A. Kurian; Dana Marafi; Alihossein Saberi; Mohammad Hamid; Robert Spaull; Linyan Meng; Seema R. Lalani; Shazia Maqbool; Fatima Rahman; Jürgen Seeger; Timothy Blake Palculict; Tracy Lau; David Murphy; Niccolò E. Mencacci; Katharina Steindl; Anaïs Begemann; Anita Rauch; Sinan Akbas; Ayça Dilruba Aslanger; Vincenzo Salpietro; Hammad Yousaf; Shay Ben‐Shachar; Katarina Ejeskär; Aida I Al Aqeel; Frances A. High; Amy Armstrong‐Javors; Seyed Mohammadsaleh Zahraei; Tahereh Seifi; Jawaher Zeighami; Gholamreza Shariati; Alireza Sedaghat; Samaneh Noroozi Asl; Mohmmad Shahrooei; Giovanni Zifarelli; Lydie Bürglen; Claudia Ravelli; Johannes Zschocke; Ulrich A. Schatz; Maryam Ghavideldarestani; Walaa A. Kamel; Hilde Van Esch; Annette Hackenberg; Jenny C. Taylor; Lihadh Al‐Gazali; Peter Bauer; Joseph J Gleeson; Fowzan S. Alkuraya; James R. Lupski; Hamid Galehdari; Reza Azizi Malamiri; Wendy K. Chung; Shahid Mahmood Baig; Henry Houlden; Mariasavina Severino
Brain
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, M T, 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 T, 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,
Acta Neuropathol.
Academic Journal
Daniah Albokhari; Amanda Barone Pritchard; Adelyn Beil; Candace Muss; Caleb Bupp; Dorothy K. Grange; Geoffroy Delplancq; Jennifer Heeley; Melissa Zuteck; Michelle M. Morrow; Paul Kuentz; Timothy Blake Palculict; Julie E. Hoover‐Fong
American Journal of Medical Genetics Part A. 191:1261-1272
Academic Journal
Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Genomics England Research Consortium; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B
Genomics England Research Consortium 2023, 'Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy', American Journal of Human Genetics, vol. 110, no. 1, pp. 120-145. https://doi.org/10.1016/j.ajhg.2022.11.011
Academic Journal
Natalie Ahmad; Walid Fazeli; Sophia Schließke; Gaetan Lesca; Zeynep Gokce-Samar; Kedous Y. Mekbib; Sheng Chih Jin; Jennifer Burton; George Hoganson; Andrea Petersen; Sara Gracie; Leslie Granger; Enrika Bartels; Henry Oppermann; Adam Kundishora; Marianne Till; Clara Milleret-Pignot; Shane Dangerfield; David Viskochil; Katherine J. Anderson; Timothy Blake Palculict; Rhonda E. Schnur; Ingrid M. Wentzensen; George E. Tiller; Kristopher T. Kahle; Wolfram S. Kunz; Sebastian Burkart; Matias Simons; Heinrich Sticht; Rami Abou Jamra; Sonja Neuser
Pediatric Neurology. 148:164-171
Academic Journal
Kerith-Rae Dias; Colleen M. Carlston; Laura E.R. Blok; Lachlan De Hayr; Urwah Nawaz; Carey-Anne Evans; Pinar Bayrak-Toydemir; Stephanie Htun; Ying Zhu; Alan Ma; Sally Ann Lynch; Catherine Moorwood; Karen Stals; Sian Ellard; Matthew N. Bainbridge; Jennifer Friedman; John G. Pappas; Rachel Rabin; Catherine B. Nowak; Jessica Douglas; Theodore E. Wilson; Maria J. Guillen Sacoto; Sureni V. Mullegama; Timothy Blake Palculict; Edwin P. Kirk; Jason R. Pinner; Matthew Edwards; Francesca Montanari; Claudio Graziano; Tommaso Pippucci; Bri Dingmann; Ian Glass; Heather C. Mefford; Takeyoshi Shimoji; Toshimitsu Suzuki; Kazuhiro Yamakawa; Haley Streff; Christian P. Schaaf; Anne M. Slavotinek; Irina Voineagu; John C. Carey; Michael F. Buckley; Annette Schenck; Robert J. Harvey; Tony Roscioli
Genetics in Medicine, 24, 9, pp. 1952-1966
Academic Journal
Stephanie Efthymiou; Wenyan Han; Muhammad Ilyas; Jun Li; Yichao Yu; Marcello Scala; Nancy T. Malintan; Nikoleta Vavouraki; Kshitij Mankad; Reza Maroofian; Clarissa Rocca; Vincenzo Salpietro; Shenela Lakhani; Eric J. Mallack; Timothy Blake Palculict; Hong Li; Guojun Zhang; Faisal Zafar; Nuzhat Rana; Noriko Takashima; Hayato Matsunaga; Claudia Manzoni; Pasquale Striano; Mark F. Lythgoe; Jun Aruga; Wei Lu; Henry Houlden
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Academic Journal
Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi JL; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Russi, Alvaro H Serrano; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases; Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H
Journal of Inherited Metabolic Disease, vol 43, iss 6
Academic Journal
Buratti, Julien; Ji, Lei; Keren, Boris; Lee, Youngha; Booke, Stephanie; Erdin, Serkan; Kim, Soo Yeon; Palculict, Timothy Blake; Meiner, Vardiella; Chae, Jong Hee; Woods, Christopher Geoffrey; Tam, Allison; Héron, Delphine; Cong, Feng; Harel, Tamar
Journal of Medical Genetics. 58:205-212
Academic Journal
Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Academic Journal
Lebo, Matthew; Steeves, Marcie; Benson, Katherine; Conlin, Laura; Ganapathi, Mythily; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; McGoldrick, Kelly; Palculict, Blake; Rehm, Heidi; Sergouniotis, Panagiotis; Schilit, Samantha; Bayrak-Toydemir, Pinar; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying Zhang; Schmidt, Ryan
Genetics in Medicine Open. 1(1)
Academic Journal
Ahmad, Natalie; Fazeli, Walid, MD; Schließke, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep, MD; Mekbib, Kedous Y., BSc; Jin, Sheng Chih; Burton, Jennifer, MSc, CGC; Hoganson, George, MD; Petersen, Andrea, MD; Gracie, Sara, MSc, CGC; Granger, Leslie, MSc, CGC; Bartels, Enrika, MD; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Dangerfield, Shane; Viskochil, David; Anderson, Katherine J., MD; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E., MD, PhD; Kahle, Kristopher T., MD, PhD; Kunz, Wolfram S., PhD; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich, PhD; Abou Jamra, Rami, MD; Neuser, Sonja, MD
Pediatric Neurology. 148:164-171
Academic Journal
Stephanie Efthymiou; Wenyan Han; Muhammad Ilyas; Jun Li; Yichao Yu; Marcello Scala; Nancy T. Malintan; Nikoleta Vavouraki; Kshitij Mankad; Reza Maroofian; Clarissa Rocca; Vincenzo Salpietro; Shenela Lakhani; Eric J. Mallack; Timothy Blake Palculict; Hong Li; Guojun Zhang; Faisal Zafar; Nuzhat Rana; Noriko Takashima; Hayato Matsunaga; Claudia Manzoni; Pasquale Striano; Mark F. Lythgoe; Jun Aruga; Wei Lu; Henry Houlden
Front Mol Neurosci
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Academic Journal
Sureni V. Mullegama; Kaitlyn A. Kiernan; Erin Torti; Ethan Pavlovsky; Nicholas Tilton; Austin Sekula; Hua Gao; Joseph T. Alaimo; Kendra Engleman; Eric T. Rush; Karli Blocker; Katrina M. Dipple; Veronica M. Fettig; Heather Hare; Ian Glass; Dorothy K. Grange; Michael Griffin; Chanika Phornphutkul; Lauren Massingham; Lakshmi Mehta; Danny E. Miller; Jenny Thies; J Lawrence Merritt; Eric Muller; Matthew Osmond; Sarah L. Sawyer; Rachel Slaugh; Rachel E. Hickey; Barry Wolf; Sanjeev Choudhary; Miljan Simonović; Yueqing Zhang; Timothy Blake Palculict; Aida Telegrafi; Deanna Alexis Carere; Ingrid M. Wentzensen; Michelle M. Morrow; Kristin G. Monaghan; Jane Juusola; Jun Yang
The American Journal of Human Genetics. 111:1240
Academic Journal
Schmid, Cosima; Gregor, Anne; Costain, Gregory; Morel, Chantal; Massingham, Lauren; Schwab, Jennifer; Quélin, Chloé; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol; Cohen, Ana; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Kianmahd Shamshoni, Jessica; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy Blake; Napier, Melanie; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, André; Sticht, Heinrich; Chung, Wendy; Zweier, Christiane
Genetics in Medicine. 25:100839
Academic Journal
Maimuna S. Paul; Anna R. Duncan; Casie A. Genetti; Hongling Pan; Adam Jackson; Patricia E. Grant; Jiahai Shi; Michele Pinelli; Nicola Brunetti-Pierri; Alexandra Garza-Flores; Dave Shahani; Russell P. Saneto; Giuseppe Zampino; Chiara Leoni; Emanuele Agolini; Antonio Novelli; Ulrike Blümlein Tobias B. Haack; Wolfram Heinritz; Eva Matzker; Bader Alhaddad; Rami Abou Jamra; Tobias Bartolomaeus; Saber AlHamdan; Raphael Carapito; Bertrand Isidor; Seiamak Bahram; Alyssa Ritter; Kosuke Izumi; Ben Pode Shakked; Ortal Barel; Bruria Ben Zeev; Amber Begtrup; Deanna Alexis Carere; Sureni V. Mullegama; Timothy Blake Palculict; Daniel G. Calame; Katharina Schwan; Alicia R.P. Aycinena; Rasa Traberg; Sofia Douzgou; Harrison Pirt; Naila Ismayilova; Siddharth Banka; Hsiao-Tuan Chao; Pankaj B. Agrawal
The American Journal of Human Genetics. 110:548
Academic Journal
Panagiotis G, Xenoulis; Patricia L, Gray; Donald, Brightsmith; Blake, Palculict; Sharman, Hoppes; Jörg M, Steiner; Ian, Tizard; Jan S, Suchodolski
Veterinary Microbiology. 146:320-325
Academic Journal
Panagiotis G. Xenoulis; Blake Palculict; Karin Allenspach; Jörg M. Steiner; Angela M. Van House; Jan S. Suchodolski
FEMS Microbiology Ecology. 66:579-589
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