المؤلفون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia MB, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi

المصدر: Brain : a journal of neurology. 145(9)

مصطلحات موضوعية: Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Neurons, Animals, Humans, Mice, rac GTP-Binding Proteins, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, RAC3, axon guidance, brain development, neuronal migration, small GTPase, Neurosciences, Pediatric, Congenital Structural Anomalies, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, RAC3, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6xw4z6x0
https://escholarship.org/content/qt6xw4z6x0/qt6xw4z6x0.pdf

المؤلفون: Hengel, Holger, Hannan, Shabab B, Dyack, Sarah, MacKay, Sara B, Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S, Alzaidan, Hamad, Alsaif, Hessa S, Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R, Gleeson, Joseph J, Dehghani, Mohammadreza, Mehrjardi, Mohammad YV, Sherr, Elliott H, Parks, Kendall C, Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A, Pagnamenta, Alistair T, Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Consortium, Care4Rare Canada, Consortium, Genomics England Research, Rieß, Angelika, Haack, Tobias B, Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, Schöls, Ludger

المصدر: American Journal of Human Genetics. 108(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Cell Movement, Child, Child, Preschool, Drosophila, Female, Fibroblasts, Humans, Infant, Loss of Function Mutation, Loss of Heterozygosity, Male, Mice, Mice, Knockout, Neoplasm Proteins, Neurodevelopmental Disorders, Pedigree, Proteome, Young Adult, Care4Rare Canada Consortium, Genomics England Research Consortium, BCAS3, UAS-Gal4, fibroblasts, global developmental delay, microcephaly, neurodevelopmental disorder, proteomics, pyramidal tract involvement, thin corpus callosum, transcriptomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7rn0f207
https://escholarship.org/content/qt7rn0f207/qt7rn0f207.pdf

المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, Vaz, Frédéric M

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Spastic Paraplegia, Hereditary, Ethers, Aldehyde Oxidoreductases, Lipids, Phenotype, Neurosciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Neurological, Genetics & Heredity, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/434856qx

المؤلفون: Cope, Heidi L., Milko, Laura V., Jalazo, Elizabeth R., Crissman, Blythe G., Foreman, Ann Katherine M., Powell, Bradford C., deJong, Neal A., Hunter, Jessica Ezzell, Boyea, Beth Lincoln, Forsythe, Ana N., Wheeler, Anne C., Zimmerman, Rebekah S., Suchy, Sharon F., Begtrup, Amber, Langley, Katherine G., Monaghan, Kristin G., Kraczkowski, Christina, Hruska, Kathleen S., Kruszka, Paul, Kucera, Katerina S., Berg, Jonathan S., Powell, Cynthia M., Peay, Holly L.

المساهمون: Juvenile Diabetes Research Foundation United States of America, John Merck Fund, Janssen Pharmaceuticals Inc, National Institutes of Health, Orchard Therapeutics, Leona M. and Harry B. Helmsley Charitable Trust, National Center for Advancing Translational Sciences

المصدر: Genetics in Medicine ; volume 26, issue 12, page 101290 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101290
https://api.elsevier.com/content/article/PII:S1098360024002247?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024002247?httpAccept=text/plain

المؤلفون: Malbos, Marlène, Vera, Gabriella, Sheth, Harsh, Schnur, Rhonda E., Juven, Aurélien, Brehin, Anne‐Claire, Sheth, Jayesh, Gandhi, Ajit, Shapiro, Faye L., Bruel, Ange‐Line, Marguet, Florent, Begtrup, Amber, Monaghan, Kristin G., Safraou, Hana, Brasseur‐Daudruy, Marie, Mau‐Them, Frédéric Tran, Duffourd, Yannis, Faivre, Laurence, Thauvin‐Robinet, Christel, Benke, Paul J., Philippe, Christophe

المساهمون: European Commission

المصدر: Clinical Genetics ; volume 106, issue 6, page 757-763 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14608
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14608

المؤلفون: Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Mundi Dhahrabi, Hassan Ali, Elcioglu, Nursel H., GOSgene, Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E.

المصدر: The American Journal of Human Genetics ; volume 111, issue 5, page 996 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.04.008
https://api.elsevier.com/content/article/PII:S000292972400123X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972400123X?httpAccept=text/plain

المؤلفون: Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna CE, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G

المصدر: European Journal of Human Genetics. 29(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Neurosciences, Human Genome, Pediatric, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Child, Preschool, Codon, Nonsense, Exome, Exons, Female, Homozygote, Humans, Male, Microcephaly, Nerve Tissue Proteins, Neurodevelopmental Disorders, Pedigree, RNA Splice Sites, RNA Splicing, Syndrome, Vesicular Transport Proteins, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8rz7m8qm

المؤلفون: Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M., Suchy, Sharon F., Begtrup, Amber, Langley, Katherine G., Hernan, Rebecca, Amendola, Laura M., Boyd, Brenna M., Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L., Coffey, Alison J., Devaney, Joseph M., Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L., Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean, Hruska, Kathleen S., Hu, Zhanzhi, Jeanne, Médéric, Jin, Guanjun, Johnson, D. Aaron, Kavus, Haluk, Leibel, Rudolph L., Lobritto, Steven J., McGee, Stephen, Milner, Joshua D., McWalter, Kirsty, Monaghan, Kristin G., Orange, Jordan S., Pimentel Soler, Nicole, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shah, Ankur, Shapiro, Natasha, Sicko, Robert J., Silver, Eric S., Strom, Samuel, Torene, Rebecca I., Williams, Olatundun, Ustach, Vincent D., Wynn, Julia, Taft, Ryan J., Kruszka, Paul, Caggana, Michele, Chung, Wendy K.

المصدر: JAMA ; volume 333, issue 3, page 232 ; ISSN 0098-7484

الاتاحة: https://doi.org/10.1001/jama.2024.19662
https://jamanetwork.com/journals/jama/articlepdf/2825327/jama_ziegler_2024_oi_240112_1736463784.41488.pdf

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: Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Buttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christele, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quelin, Chloe, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martinez-Cerdeno, Veronica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

مصطلحات موضوعية: Neurology & Neurosurgery, Medical and Health Sciences, Psychology and Cognitive Sciences

URL الوصول: https://escholarship.org/uc/item/8cc843ht

المؤلفون: Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

المصدر: Brain. 142(9)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Health Sciences, Psychology, Biotechnology, Stem Cell Research, Clinical Research, Human Genome, Mental Health, Congenital Structural Anomalies, Neurosciences, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Mental health, Neurological, Adaptor Proteins, Signal Transducing, Adolescent, Animals, Autophagy-Related Proteins, Brain, Child, Child, Preschool, Female, Genetic Variation, Humans, Male, Mice, Mice, Transgenic, Neurodevelopmental Disorders, Organ Size, Protein Structure, Secondary, WDFY3, brain size, neurodevelopmental delay, intellectual disability, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8pr0p6tk
https://escholarship.org/content/qt8pr0p6tk/qt8pr0p6tk.pdf

المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, Wentzensen, Ingrid, Crunk, Amy, Nicholls, Robert, Deignan, Joshua, Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, Martinez, Jose, Finnila, Candice, Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, Lindhout, Dick, Au, Margaret, Graham, John, Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, Lessard, Julie, Ernst, Carl, Campeau, Philippe, Herman, Kristin

المصدر: American Journal of Human Genetics. 104(5)

مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Actins, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Dendrites, Epilepsy, Female, Humans, Induced Pluripotent Stem Cells, Infant, Male, Mutation, Neurodevelopmental Disorders, Neurons, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m384791

المؤلفون: Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara DM

المصدر: Brain. 142(3)

مصطلحات موضوعية: Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/235891bk

المؤلفون: Palmer, Elizabeth E, Hong, Seungbeom, Zahrani, Fatema Al, Hashem, Mais O, Aleisa, Fajr A, Ahmed, Heba M Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E, Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P, Cowley, Mark J, Dinger, Marcel, Rosenfeld, Jill A, Xiao, Rui, Cho, Megan T, Yakubu, Suliat F, Henderson, Lindsay B, Sacoto, Maria J Guillen, Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V, Jones, Marilyn C, Lindstrom, Kristin, Bristol, Ruth E, Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P, Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K, Alkuraya, Fowzan S, Arold, Stefan T

المصدر: American Journal of Human Genetics. 104(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Neurodegenerative, Rare Diseases, Genetics, Pediatric, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Amino Acid Motifs, Child, Child, Preschool, Female, Genetic Variation, Humans, Infant, Male, Nerve Tissue Proteins, Neurocognitive Disorders, Phenotype, Prognosis, Repetitive Sequences, Nucleic Acid, Syndrome, HX repeat, allelic disorders, developmental delay, dysmorphic, intellectual disability, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9q1277p4

المؤلفون: Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, Denommé-Pichon, Anne-Sophie

المصدر: American journal of human genetics. 104(3)

مصطلحات موضوعية: CAUSES Study, Deciphering Developmental Disorders study, Humans, Syndrome, Adaptor Proteins, Signal Transducing, Nuclear Proteins, Prognosis, Autistic Disorder, Amino Acid Sequence, Sequence Homology, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Intellectual Disability, TRRAP, autism spectrum disorder, congenital malformations, de novo variants, histone acetylation, intellectual disability, neurodevelopmental disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Neurosciences, Mental Health, Autism, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4cf0w8wv

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

وصف الملف: text

Relation: https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx; https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf; Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry and Maroofian, Reza (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25 (1), 135-142. (doi:10.1016/j.gim.2022.09.016 ).

الاتاحة: https://eprints.soton.ac.uk/472172/
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx
https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf

المؤلفون: Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

المصدر: Smallwood , K , Watt , K E N , Ide , S , Baltrunaite , K , Brunswick , C , Inskeep , K , Capannari , C , Adam , M P , Begtrup , A , Bertola , D R , Demmer , L , Demo , E , Devinsky , O , Gallagher , E R , Guillen Sacoto , M J , Jech , R , Keren , B , Kussmann , J , Ladda , R , Lansdon , L A , Lunke , S , Mardy , A , McWalters , K ....

الاتاحة: https://pure.eur.nl/en/publications/04798803-ca47-4dc5-ba09-751d4505ba47
https://doi.org/10.1016/j.ajhg.2023.03.014
http://www.scopus.com/inward/record.url?scp=85153621066&partnerID=8YFLogxK

المؤلفون: Accogli, Andrea, Lin, Sheng-Jia, Severino, Mariasavina, Kim, Sung-Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha, Al-Maawali, Almundher, Srinivasan, Varunvenkat M, Al-Thihli, Khalid, Schaefer, G Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M, Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L, Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Swayer, Lindsey B, Basinger, Alice A, Pedersen, Signe Vandal, Pearson, Toni S, Grange, Dorothy K, Lingapp, Lokesh, McDunnah, Paige, Horvath, Rita, Cogne, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen, Jafarnejad, Seyed Mehdi, Ostergaard, Elsebet, Prada, Carlos E, Ghezzi, Daniele, Gowda, Vykuntaraju K, Taylor, Robert W, Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K, Maroofian, Reza

المساهمون: A. Accogli, S. Lin, M. Severino, S. Kim, K. Huang, C. Rocca, M. Landsverk, M. Zaki, A. Al-Maawali, V.M. Srinivasan, K. Al-Thihli, G.B. Schaefer, M. Davi, D. Tonduti, C. Doneda, L.M. Marten, C. Mühlhausen, M. Gomez, E. Lamantea, R. Mena, M. Nizon, V. Procaccio, A. Begtrup, A. Telegrafi, H. Cui, H.L. Schulz, J. Mohr, S. Biskup, M.A. Loo, H.V. Aráoz, V. Salpietro, L.D. Keppen, M. Chitre, C. Petree, L. Raymond, J. Vogt, L.B. Swayer, A.A. Basinger, S.V. Pedersen, T.S. Pearson, D.K. Grange, L. Lingapp, P. Mcdunnah, R. Horvath, B. Cogne, B. Isidor, A. Hahn, K. Gripp, S.M. Jafarnejad, E. Ostergaard, C.E. Prada, D. Ghezzi, V.K. Gowda, R.W. Taylor, N. Sonenberg, H. Houlden, M. Sissler, G.K. Varshney, R. Maroofian

مصطلحات موضوعية: TARS2, cerebellar atrophy, mTORC1 signaling, mitochondrial dysfunction, mitochondrial threonyl-tRNA-synthetase, white matter, Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/37454282; info:eu-repo/semantics/altIdentifier/wos/WOS:001068546800001; volume:25; issue:11; firstpage:1; lastpage:15; numberofpages:15; journal:GENETICS IN MEDICINE; https://hdl.handle.net/2434/994249; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85170200663

الاتاحة: https://hdl.handle.net/2434/994249
https://doi.org/10.1016/j.gim.2023.100938

المؤلفون: Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J., Davies, Sally J., Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E., Greenhalgh, Lynn, Holder, Susan E., Johnson, Diana, Kumar, Ajith, Ladda, Roger L., Sell, Susan, Begtrup, Amber, Lynch, Sally A., McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda, Fry, Andrew E.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/163203/1/CLARKE,%20ANGUS%20-%20B%C3%B6rjeson%3FForssman%3FLehmann%20syndrome%20delineating%20the%20clinical%20and%20allelic%20spectrum%20in%2014%20new%20families.pdf; Jain, Vani, Foo, Seow Hoong, Chooi, Stephen https://orca.cardiff.ac.uk/view/cardiffauthors/A2419055B.html, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J. https://orca.cardiff.ac.uk/view/cardiffauthors/A0238088.html orcid:0000-0002-1200-9286 orcid:0000-0002-1200-9286, Davies, Sally J., Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E., Greenhalgh, Lynn, Holder, Susan E., Johnson, Diana, Kumar, Ajith, Ladda, Roger L., Sell, Susan, Begtrup, Amber, Lynch, Sally A., McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda and Fry, Andrew E. https://orca.cardiff.ac.uk/view/cardiffauthors/A126971M.html orcid:0000-0001-9778-6924 orcid:0000-0001-9778-6924 2023. Börjeson–Forssman–Lehmann syndrome: Delineating the clinical and allelic spectrum in 14 new families. European Journal of Human Genetics 31 , pp. 1421-1429. 10.1038/s41431-023-01447-0 https://doi.org/10.1038/s41431-023-01447-0 file https://orca.cardiff.ac.uk/id/eprint/163203/1/CLARKE,%20ANGUS%20-%20B%C3%B6rjeson%3FForssman%3FLehmann%20syndrome%20delineating%20the%20clinical%20and%20allelic%20spectrum%20in%2014%20new%20families.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/163203/
https://doi.org/10.1038/s41431-023-01447-0
https://orca.cardiff.ac.uk/id/eprint/163203/1/CLARKE,%20ANGUS%20-%20B%C3%B6rjeson%3FForssman%3FLehmann%20syndrome%20delineating%20the%20clinical%20and%20allelic%20spectrum%20in%2014%20new%20families.pdf

المؤلفون: 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, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B.

المصدر: The American Journal of Human Genetics ; volume 110, issue 1, page 120-145 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.11.011
https://api.elsevier.com/content/article/PII:S000292972200502X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972200502X?httpAccept=text/plain