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المصدر: Journal of Medical Genetics. 61(6)

مصطلحات موضوعية: Drug-Related Side Effects and Adverse Reactions, Fabry Disease, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, alpha-Galactosidase, Humans, Fabry Disease, Male, alpha-Galactosidase, Adult, Female, Middle Aged, Glomerular Filtration Rate, Enzyme Replacement Therapy, Isoenzymes, Recombinant Proteins, Adolescent, Young Adult, Treatment Outcome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/183768dv
https://escholarship.org/content/qt183768dv/qt183768dv.pdf

المؤلفون: Jeong, Hyo-Jung, Tarima, Sergey, Nguyen, Anthony, Qashqai, Anahita, Muriello, Michael, Basel, Donald, Slavens, Brooke A.

المصدر: In Journal of Biomechanics June 2024 170

المؤلفون: Jeong, Hyo-Jung, Engel, Joyce M., Muriello, Michael, Basel, Donald, Slavens, Brooke A.

المصدر: In Gait & Posture March 2024 109:271-276

المؤلفون: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: Organoids, Animals, Zebrafish, Humans, Epilepsy, Syndrome, Oxidoreductases, Pedigree, Kinetics, Genes, Recessive, Alleles, Adolescent, Child, Child, Preschool, Infant, Female, Male, Protein Domains, Loss of Function Mutation, Preschool, Genes, Recessive

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5f80k46t

المؤلفون: Muriello, Michael, Basel, Donald

المصدر: In Critical Care Clinics April 2022 38(2):173-184

المؤلفون: Wang, You, Clemens, Julia L, Muriello, Michael, Mu, Weiyi, Smith, Christy H, Tran, Phuong T, Rowe, Peter C, Francomano, Clair, Kline, Antonie D, Bodurtha, Joann

المصدر: Journal of Child Health Care; Jun2024, Vol. 28 Issue 2, p316-328, 13p

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المؤلفون: del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago

المصدر: In Genetics in Medicine October 2020 22(10):1598-1605

المؤلفون: Scott, William, Wong, Ian Guo Yi, Cramer, Jesse, Horton, Darlene, Basel, Donald, Teng, Ru‐Jeng, Muriello, Michael, Elkadri, Abdul

المصدر: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-6, 6p