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1دورية أكاديمية
المؤلفون: Rad, Aboulfazl, Bartsch, Oliver, Bakhtiari, Somayeh, Zhu, Changlian, Xu, Yiran, Monteiro, Fabíola P, Kok, Fernando, Vulto-van Silfhout, Anneke T, Kruer, Michael C, Bowl, Michael R, Vona, Barbara
المصدر: Rad , A , Bartsch , O , Bakhtiari , S , Zhu , C , Xu , Y , Monteiro , F P , Kok , F , Vulto-van Silfhout , A T , Kruer , M C , Bowl , M R & Vona , B 2024 , ' Expanding the spectrum of phenotypes for MPDZ : Report of four unrelated families and review of the literature ' , Clinical Genetics . https://doi.org/10.1111/cge.14563Test
مصطلحات موضوعية: MPDZ, hearing loss, hydrocephaly, phenotypic heterogeneity, spasticity
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/a90f2779-829b-4c28-a2e5-b4595c53533fTest
الإتاحة: https://doi.org/10.1111/cge.14563Test
https://cris.maastrichtuniversity.nl/en/publications/a90f2779-829b-4c28-a2e5-b4595c53533fTest -
2دورية أكاديمية
المؤلفون: Duan, Jiajia, Xu, Falin, Zhu, Chaoya, Wang, Ju, Zhang, Xiaoli, Xu, Yiran, Li, Bingbing, Peng, Xirui, Zhu, Jinjin, Wang, Xiaoyang, Zhu, Changlian
المساهمون: National Key Research and Development Program of China, National Natural Science Foundation of China
المصدر: Histopathology ; volume 84, issue 6, page 1024-1037 ; ISSN 0309-0167 1365-2559
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3دورية أكاديمية
المؤلفون: Gao, Qi, Bi, Dan, Li, Bingbing, Ni, Min, Pang, Dizhou, Li, Xian, Zhang, Xiaoli, Xu, Yiran, Zhao, Qiang, Zhu, Changlian
المساهمون: University of Gothenburg
المصدر: Molecular Neurobiology ; ISSN 0893-7648 1559-1182
مصطلحات موضوعية: Neuroscience (miscellaneous), Cellular and Molecular Neuroscience, Neurology
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4دورية أكاديمية
المؤلفون: Yuan, Junying, Cui, Mengli, Liang, Qiongqiong, Zhu, Dengna, Liu, Jie, Hu, Jiefeng, Ma, Shijie, Li, Dong, Wang, Jing, Wang, Xuejie, Ma, Deyou, Himmelmann, Kate, Wang, Xiaoyang, Xu, Yiran, Zhu, Changlian
المصدر: Neuroepidemiology ; page 1-11 ; ISSN 0251-5350 1423-0208
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5دورية أكاديمية
المؤلفون: Cheng, Ye, Xu, Yiran, Li, Hongwei, Qiao, Yimeng, Wang, Yangong, Su, Yu, Zhang, Jin, Wang, Xiaoyang, Song, Lili, Ding, Jian, Wang, Dan, Zhu, Changlian, Xing, Qinghe
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1870, issue 3, page 167008 ; ISSN 0925-4439
مصطلحات موضوعية: Molecular Biology, Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.bbadis.2023.167008Test
https://api.elsevier.com/content/article/PII:S0925443923003745?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0925443923003745?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Li, Qian, Wang, Man, Zhang, Yue, Li, Yubing, Zhang, Xianfen, Li, Haowei, Peng, Ying, Zhu, Changlian, Zheng, Pengyuan, Yang, Shaolong, Li, Jiang, Lin, Jiafu, He, Rong, Zhang, Hongmei, Zhou, Huoxiang
المصدر: Journal of Functional Foods ; volume 112, page 105928 ; ISSN 1756-4646
مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous), Food Science
الإتاحة: https://doi.org/10.1016/j.jff.2023.105928Test
https://api.elsevier.com/content/article/PII:S1756464623005285?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1756464623005285?httpAccept=text/plainTest -
7
المؤلفون: Wang, Yangong, Xu, Yiran, Zhou, Chongchen, Cheng, Ye, Qiao, Niu, Shang, Qing, Xia, Lei, Song, Juan, Gao, Chao, Qiao, Yimeng, Zhang, Xiaoli, Li, Ming, Ma, Caiyun, Fan, Yangyi, Peng, Xirui, Wu, Silin, Lv, Nan, Li, Bingbing, Sun, Yanyan, Zhang, Bohao, Li, Tongchuan, Li, Hongwei, Zhang, Jin, Su, Yu, Li, Qiaoli, Yuan, Junying, Liu, Lei, Moreno-De-Luca, Andres, Maclennan, Alastair H., Gecz, Jozef, Zhu, Dengna, Wang, Xiaoyang, 1965, Zhu, Changlian, Xing, Qinghe
المصدر: NATURE MEDICINE. 30:1395-1405
مصطلحات موضوعية: Medical Genetics, Medicinsk genetik
الوصول الحر: https://gup.ub.gu.se/publication/338889Test
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8
المؤلفون: Xu, Yiran, Li, Yifei, Richard, Seidu A., Sun, Yanyan, Zhu, Changlian, 1964
المصدر: NEURAL REGENERATION RESEARCH. 19(7):1499-1508
مصطلحات موضوعية: Neurosciences, Neurovetenskaper, cerebral palsy, environmental factors, etiology, genetic factors, genetic mutation, movement disorder, spastic diplegia
الوصول الحر: https://gup.ub.gu.se/publication/334998Test
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9دورية أكاديمية
المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita
المصدر: Brain. 144(5)
مصطلحات موضوعية: Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3zq3c14vTest
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10دورية أكاديمية
المؤلفون: Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, de Villemeur, Thierry Billette, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Genomics, Task Force for Neonatal, Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D
المصدر: American Journal of Human Genetics. 103(5)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurodegenerative, Brain Disorders, Neurosciences, Epilepsy, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Calcium Channels, R-Type, Cation Transport Proteins, Child, Child, Preschool, Contracture, Dyskinesias, Female, Genetic Variation, Humans, Infant, Male, Megalencephaly, Neurodevelopmental Disorders, Spasms, Infantile, Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study, CACNA1E, ion channel, arthrogryposis, calcium channel, epilepsy, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2061z9kgTest
