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1دورية أكاديمية
المؤلفون: 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
المساهمون: 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
العلاقة: EXC 2067: Multiscale Bioimaging; https://resolver.sub.uni-goettingenTest.de/purl?gro-2/142388; https://mbexc.uni-goettingenTest.de/literature/publications/922
الإتاحة: https://doi.org/10.1038/s41467-024-46354-0Test
https://resolver.sub.uni-goettingenTest.de/purl?gro-2/142388
https://mbexc.uni-goettingenTest.de/literature/publications/922 -
2دورية أكاديمية
المؤلفون: Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Hallie E, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Mohnish, Suri, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
المصدر: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; . (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://boris.unibe.ch/178597Test/
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3دورية أكاديمية
المؤلفون: Lin, Sheng-Jia, Vona, Barbara, Lau, Tracy, Huang, Kevin, Zaki, Maha S, Aldeen, Huda Shujaa, Karimiani, Ehsan Ghayoor, Rocca, Clarissa, Noureldeen, Mahmoud M, Saad, Ahmed K, Petree, Cassidy, Bartolomaeus, Tobias, Abou Jamra, Rami, Zifarelli, Giovanni, Gotkhindikar, Aditi, Wentzensen, Ingrid M, Liao, Mingjuan, Cork, Emalyn Elise, Varshney, Pratishtha, Hashemi, Narges, Mohammadi, Mohammad Hasan, Rad, Aboulfazl, Neira, Juanita, Toosi, Mehran Beiraghi, Knopp, Cordula, Kurth, Ingo, Challman, Thomas D, Smith, Rebecca, Abdalla, Asmahan, Haaf, Thomas, Suri, Mohnish, Joshi, Manali, Chung, Wendy K, Moreno-De-Luca, Andres, Houlden, Henry, Maroofian, Reza, Varshney, Gaurav K
المصدر: Genome Medicine , 15 , Article 102. (2023)
مصطلحات موضوعية: 2-oxo acid dehydrogenase, Disease model, Genetic compensation, Mitochondria, Neurodevelopmental disorders, OGDHL, Variant testing, Zebrafish, Animals, Humans, Proteins, Gene Frequency, Ketoglutarate Dehydrogenase Complex, Phenotype
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10183213/1/s13073-023-01258-4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10183213Test/
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4دورية أكاديمية
المؤلفون: Kundishora, Adam J, Allington, Garrett, McGee, Stephen, Mekbib, Kedous Y, Gainullin, Vladimir, Timberlake, Andrew T, Nelson-Williams, Carol, Kiziltug, Emre, Smith, Hannah, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q, Elsamadicy, Aladine A, Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M, DiLuna, Michael L, Mane, Shrikant, Tikhonova, Irina R, Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R, Furey, Charuta G, Carter, Bob S, Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L, Gunel, Murat, Millan, Francisca, Lifton, Richard P, Torene, Rebecca I, Jin, Sheng Chih, Kahle, Kristopher T
المصدر: Nature Medicine , 29 pp. 667-678. (2023)
مصطلحات موضوعية: Brain, Development of the nervous system, Disease genetics, Medical genomics
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10166692Test/
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5دورية أكاديمية
المؤلفون: Taylor, Cora M., Finucane, Brenda M., Moreno-De-Luca, Andres, Walsh, Lauren K., Martin, Christa Lese, Ledbetter, David H.
المساهمون: National Institutes of Health, National Institute of Mental Health, National Institute of Child Health and Human Development
المصدر: Genetics in Medicine ; volume 25, issue 1, page 151-154 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.09.011Test
https://api.elsevier.com/content/article/PII:S1098360022009492?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022009492?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: DeSpenza, Tyrone, Singh, Amrita, Allington, Garrett, Zhao, Shujuan, Lee, Junghoon, Kiziltug, Emre, Prina, Mackenzi L, Desmet, Nicole, Dang, Huy Q, Fields, Jennifer, Nelson-Williams, Carol, Zhang, Junhui, Mekbib, Kedous Y, Dennis, Evan, Mehta, Neel H, Duy, Phan Q, Shimelis, Hermela, Walsh, Lauren K, Marlier, Arnaud, Deniz, Engin, Lake, Evelyn M R, Constable, R Todd, Hoffman, Ellen J, Lifton, Richard P, Gulledge, Allan, Fiering, Steven, Moreno-De-Luca, Andres, Haider, Shozeb, Alper, Seth L, Jin, Sheng Chih, Kahle, Kristopher T, Luikart, Bryan W
المصدر: Proc Natl Acad Sci U S A ; ISSN:1091-6490 ; Volume:121 ; Issue:27
مصطلحات موضوعية: autism, cerebrospinal fluid dynamics, ciliopathy, hydrocephalus, structural brain disorder
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7دورية أكاديمية
المؤلفون: Duy, Phan Q, Jux, Bettina, Zhao, Shujuan, Mekbib, Kedous Y, Dennis, Evan, Dong, Weilai, Nelson-Williams, Carol, Mehta, Neel H, Shohfi, John P, Juusola, Jane, Allington, Garrett, Smith, Hannah, Marlin, Sandrine, Belhous, Kahina, Monteleone, Berrin, Schaefer, G Bradley, Pisarska, Margareta D, Vásquez, Jaime, Estrada-Veras, Juviannee I, Keren, Boris, Mignot, Cyril, Flore, Leigh A, Palafoll, Irene V, Alper, Seth L, Lifton, Richard P, Haider, Shozeb, Moreno-De-Luca, Andres, Jin, Sheng Chih, Kolanus, Waldemar, Kahle, Kristopher T
المصدر: Brain , Article awae175. (2024)
مصطلحات موضوعية: Brain development, de novo variants, hydrocephalus, neural stem cells, structural brain disorders, TRIM71
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8دورية أكاديمية
المؤلفون: Singh, Amrita K, Allington, Garrett, Viviano, Stephen, McGee, Stephen, Kiziltug, Emre, Ma, Shaojie, Zhao, Shujuan, Mekbib, Kedous Y, Shohfi, John P, Duy, Phan Q, DeSpenza, Tyrone, Furey, Charuta G, Reeves, Benjamin C, Smith, Hannah, Sousa, André MM, Cherskov, Adriana, Allocco, August, Nelson-Williams, Carol, Haider, Shozeb, Rizvi, Syed RA, Alper, Seth L, Sestan, Nenad, Shimelis, Hermela, Walsh, Lauren K, Lifton, Richard P, Moreno-De-Luca, Andres, Jin, Sheng Chih, Kruszka, Paul, Deniz, Engin, Kahle, Kristopher T
المصدر: Brain , 147 (4) pp. 1553-1570. (2024)
مصطلحات موضوعية: congenital, neurodevelopment, chromatin, neurosurgery, genetics, genomics
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9دورية أكاديمية
المؤلفون: Elloumi, Houda Zghal, Kaiyrzhanov, Rauan, Zaki, Maha S., Lau, Tracy, Sen, Sambuddha, Azizimalamiri, Reza, Zamani, Mina, Sayin, Gozde Yesil, Hilander, Taru, Efthymiou, Stephanie, Chelban, Viorica, Brown, Ruth, Thompson, Kyle, Scarano, Maria Irene, Ganesh, Jaya, Koneev, Kairgali, Gulacar, İsmail Musab, Person, Richard, Sadykova, Dinara, Maidyrov, Yerdan, Seifi, Tahereh, Zadagali, Aizhan, Bernard, Genevieve, Allis, Katrina, Lindy, Amanda, Taghiabadi, Ehsan, Verma, Sumit, Logan, Rachel, Kirmse, Brian, Bai, Renkui, Khalaf, Shaimaa M., Abdel-Hamid, Mohamed S., Sedaghat, Alireza, Shariati, Gholamreza, Issa, Mahmoud, Zeighami, Jawaher, Elbendary, Hasnaa M., Brown, Garry, Taylor, Robert W., Galehdari, Hamid, Gleeson, Joseph J., Carroll, Christopher J., Cowan, James A., Moreno-De-Luca, Andres, Houlden, Henry, Maroofian, Reza
العلاقة: e6817e8d-7fb0-406a-a63a-7a85e4f10f76; https://avesis.yyu.edu.tr/publication/details/e6817e8d-7fb0-406a-a63a-7a85e4f10f76/oaiTest
الإتاحة: https://doi.org/10.1002/acn3.51679Test
https://avesis.yyu.edu.tr/publication/details/e6817e8d-7fb0-406a-a63a-7a85e4f10f76/oaiTest -
10دورية أكاديمية
المؤلفون: Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A
المساهمون: Genetica Klinische Genetica, Brain
مصطلحات موضوعية: Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway, Genetics(clinical), Journal Article
وصف الملف: application/pdf
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