المؤلفون: Dutra-Clarke, A.V.C., Souza, F.B.V.A. de

المصدر: Revista Brasileira de Zoologia. January 1990 7(3)

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-81751990000300011Test

المؤلفون: Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A, Lalani, Seema R, Rosenfeld, Jill A, Azamian, Mahshid S, Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Center, UCLA Clinical Genomics, Nelson, Stanley F, Grody, Wayne W, Deignan, Joshua L, Kang, Sung-Hae, Arboleda, Valerie A, Senaratne, T Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S, Kianmahd, Jessica, Hinkamp, Franceska L, Neustadt, Ahna M, Fogel, Brent L, Quintero-Rivera, Fabiola, Noh, Grace J, Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E, Gavrilova, Ralitza, Mirzaa, Ghayda M, Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A, Ekici, Arif B, Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

المصدر: American Journal of Human Genetics. 107(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Human Genome, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Animals, Child, Drosophila melanogaster, Female, Gene Knockdown Techniques, Genetic Variation, Heterozygote, Humans, Intellectual Disability, Locomotion, Male, Mutation, Neurodevelopmental Disorders, RNA Polymerase II, RNA Processing, Post-Transcriptional, RNA, Messenger, Seizures, Serine-Arginine Splicing Factors, Exome Sequencing, UCLA Clinical Genomics Center, SCAF4, epilepsy, intellectual disability, mRNA processing, neurodevelopmental disorder, seizures, 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/6pn9k34cTest

المؤلفون: Dutra-Clarke, Marina, Tapia, Daisy, Curtin, Emily, Rünger, Dennis, Lee, Grace K, Lakatos, Anita, Alandy-Dy, Zyza, Freedkin, Linda, Hall, Kathy, Ercelen, Nesrin, Alandy-Dy, Jousef, Knight, Margaret, Pahl, Madeleine, Lombardo, Dawn, Kimonis, Virginia

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Orphan Drug, Pediatric, Neurodegenerative, Kidney Disease, Rare Diseases, Peripheral Neuropathy, Neurosciences, Chronic Pain, Biotechnology, Pain Research, Fabry disease, Enzyme replacement therapy, Agalsidase beta, Globotriaosylceramide, GL-3, GLA gene, Biochemistry and Cell Biology, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3hr6979kTest
https://escholarship.org/content/qt3hr6979k/qt3hr6979k.pdfTest

المؤلفون: Kim, Gi Bum, Pacheco, David Rincon Fernandez, Saxon, David, Yang, Amy, Sabet, Sara, Dutra-Clarke, Marina, Levy, Rachelle, Watkins, Ashley, Park, Hannah, Akhtar, Aslam Abbasi, Linesch, Paul W, Kobritz, Naomi, Chandra, Swasty S, Grausam, Katie, Ayala-Sarmiento, Alberto, Molina, Jessica, Sedivakova, Kristyna, Hoang, Kendy, Tsyporin, Jeremiah, Gareau, Daniel S, Filbin, Mariella G, Bannykh, Serguei, Santiskulvong, Chintda, Wang, Yizhou, Tang, Jie, Suva, Mario L, Chen, Bin, Danielpour, Moise, Breunig, Joshua J

المصدر: Cell. 179(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Genetics, Brain Disorders, Neurosciences, Cancer, Biotechnology, Animals, Brain Neoplasms, Cell Line, Tumor, Disease Models, Animal, Female, Gene Targeting, Genetic Loci, Glioma, HEK293 Cells, Humans, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Mutagenesis, Insertional, Neural Stem Cells, Recombinases, Transfection, Transgenes, AAVS1 locus, Brainbow, CRISPR/Cas9 base editors, MADR MAX, RMCE, VCre, ependymoma, epigenetics, scATAC-seq, scRNA-seq, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3xb4h838Test

المؤلفون: Husain, Majid, Dutra‐Clarke, Marina, Lemieux, Bryan, Wencel, Marie, Solomon, Benjamin D, Kimonis, Virginia

المصدر: American Journal of Medical Genetics Part A. 176(9)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Digestive Diseases, Abnormalities, Multiple, Anal Canal, Biological Variation, Population, Esophagus, Female, Genetic Association Studies, Genetic Variation, Heart Defects, Congenital, Humans, Kidney, Limb Deformities, Congenital, Male, Phenotype, Spine, Trachea, 16p11.2, 3p25.2, VACTERL, VACTERL association, VATER, VATER association, 16p11.2, 3p25.2, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4c3478kvTest

المؤلفون: Elisa Calì, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Faqeih, Emilia K. Bijlsma, Kristen Wigby, Diana Baralle, Mohammad Yahya Vahidi Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn C. Jones, Dmitriy Niyazov, Jennifer Jacober, Rebecca O. Littlejohn, Denisa Weis, Neda Zadeh, Lance H. Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra‐Clarke, Gabriella Horváth, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto‐van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya Ebrahimi Nasab, A. Gulhan Ercan‐Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stéphanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada M.H. Abdel‐Salam, Megan Li, Mario Bengala, Amelie J. Müller, María Cristina Digilio

مصطلحات موضوعية: Protein Arginine Methylation in Mammals, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Epigenetic Modifications and Their Functional Implications, Protein Arginine Methyltransferases, Brachydactyly, Short stature, Autism spectrum disorder, Hypotonia, Global developmental delay, Neurodevelopmental disorder, Intellectual disability, Craniofacial, Craniofacial abnormality, Medicine, Genetics, FOS Biological sciences, Pediatrics, Psychology, FOS Psychology, Phenotype, Autism, Biology, Psychiatry, Gene

العلاقة: https://dx.doi.org/10.60692/cevh8-acb83Test

الإتاحة: https://doi.org/10.60692/jn944-8r25510.60692/cevh8-acb83Test

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

العلاقة: https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docxTest; https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdfTest; 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 ).

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.016Test
https://eprints.soton.ac.uk/472172Test/
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docxTest
https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdfTest

المؤلفون: Cali, E, Suri, M, Scala, M, Ferla, MP, Alavi, S, Faqeih, EA, Bijlsma, EK, Wigby, KM, Baralle, D, Mehrjardi, MYV, Schwab, J, Platzer, K, Steindl, K, Hashem, M, Jones, M, Niyazov, DM, Jacober, J, Littlejohn, RO, Weis, D, Zadeh, N, Rodan, L, Goldenberg, A, Lecoquierre, F, Dutra-Clarke, M, Horvath, G, Young, D, Orenstein, N, Bawazeer, S, Vulto-van Silfhout, AT, Herenger, Y, Dehghani, M, Seyedhassani, SM, Bahreini, A, Nasab, ME, Ercan-Sencicek, AG, Firoozfar, Z, Movahedinia, M, Efthymiou, S, Striano, P, Karimiani, EG, Salpietro, V, Taylor, JC, Redman, M, Stegmann, APA, Laner, A, Abdel-Salam, G, Li, M, Bengala, M, Müller, AJ, Digilio, MC, Rauch, A, Gunel, M, Titheradge, H, Schweitzer, DN, Kraus, A, Valenzuela, I, McLean, SD, Phornphutkul, C, Salih, M, Begtrup, A, Schnur, RE, Torti, E, Haack, TB, Prada, CE, Alkuraya, FS, Houlden, H, Maroofian, R

وصف الملف: application/pdf; application/vnd.ms-excel; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115315/1/1-s2.0-S1098360022009546-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115315/6/1-s2.0-S1098360022009546-mmc1.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115315/7/1-s2.0-S1098360022009546-mmc2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115315/8/1-s2.0-S1098360022009546-mmc3.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115315/9/1-s2.0-S1098360022009546-mmc4.docxTest; Cali, E; Suri, M; Scala, M; Ferla, MP; Alavi, S; Faqeih, EA; Bijlsma, EK; Wigby, KM; Baralle, D; Mehrjardi, MYV; et al. Cali, E; Suri, M; Scala, M; Ferla, MP; Alavi, S; Faqeih, EA; Bijlsma, EK; Wigby, KM; Baralle, D; Mehrjardi, MYV; Schwab, J; Platzer, K; Steindl, K; Hashem, M; Jones, M; Niyazov, DM; Jacober, J; Littlejohn, RO; Weis, D; Zadeh, N; Rodan, L; Goldenberg, A; Lecoquierre, F; Dutra-Clarke, M; Horvath, G; Young, D; Orenstein, N; Bawazeer, S; Vulto-van Silfhout, AT; Herenger, Y; Dehghani, M; Seyedhassani, SM; Bahreini, A; Nasab, ME; Ercan-Sencicek, AG; Firoozfar, Z; Movahedinia, M; Efthymiou, S; Striano, P; Karimiani, EG; Salpietro, V; Taylor, JC; Redman, M; Stegmann, APA; Laner, A; Abdel-Salam, G; Li, M; Bengala, M; Müller, AJ; Digilio, MC; Rauch, A; Gunel, M; Titheradge, H; Schweitzer, DN; Kraus, A; Valenzuela, I; McLean, SD; Phornphutkul, C; Salih, M; Begtrup, A; Schnur, RE; Torti, E; Haack, TB; Prada, CE; Alkuraya, FS; Houlden, H; Maroofian, R (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med, 25 (1). pp. 135-142. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2022.09.016Test SGUL Authors: Karimiani, Ehsan Ghayoor

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.016Test
https://openaccess.sgul.ac.uk/id/eprint/115315Test/
https://openaccess.sgul.ac.uk/id/eprint/115315/1/1-s2.0-S1098360022009546-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115315/6/1-s2.0-S1098360022009546-mmc1.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115315/7/1-s2.0-S1098360022009546-mmc2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115315/8/1-s2.0-S1098360022009546-mmc3.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115315/9/1-s2.0-S1098360022009546-mmc4.docxTest

المؤلفون: Kaiyrzhanov, Rauan, Mohammed, Sami E.M., Maroofian, Reza, Husain, Ralf A., Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G., Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A., Lam, Amanda, Manole, Andreea, Rodriguez, Diego-Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A., Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B., Carrozzo, Rosalba, Haack, Tobias B., Taylor, Robert W., Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry

مصطلحات موضوعية: LETM1, Wolf-Hirschhorn Syndrome, Genetics, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Doenças Genéticas

العلاقة: https://www.sciencedirect.com/science/article/pii/S0002929722003111?via%3DihubTest; Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi:10.1016/j.ajhg.2022.07.007; http://hdl.handle.net/10400.18/8559Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.007Test
http://hdl.handle.net/10400.18/8559Test

المؤلفون: Ramus, SJ, Kartsonaki, C, Gayther, SA, Pharoah, PDP, Sinilnikova, OM, Beesley, J, Chen, XQ, McGuffog, L, Healey, S, Couch, FJ, Wang, XS, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, MH, Mai, PL, Andrulis, IL, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, AM, Kruse, TA, Cruger, D, Jensen, UB, Caligo, MA, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Askmalm, MS, Borg, A, Neuhausen, SL, Ding, YC, Nathanson, KL, Domchek, SM, Jakubowska, A, Lubinski, J, Huzarski, T, Byrski, T, Gronwald, J, Gorski, B, Cybulski, C, Debniak, T, Osorio, A, Duran, M, Tejada, MI, Benitez, J, Hamann, U, Rookus, MA, Verhoef, S, Tilanus-Linthorst, MA, Vreeswijk, MP, Bodmer, D, Ausems, MGEM, van Os, TA, Asperen, CJ, Blok, MJ, Meijers-Heijboer, HEJ, Peock, S, Cook, M, Oliver, C, Frost, D, Dunning, AM, Evans, DG, Eeles, R, Pichert, G, Cole, T, Hodgson, S, Brewer, C, Morrison, PJ, Porteous, M, Kennedy, MJ, Rogers, MT, Side, LE, Donaldson, A, Gregory, H, Godwin, A, Stoppa-Lyonnet, D, Moncoutier, V, Castera, L, Mazoyer, S, Barjhoux, L, Bonadona, V, Leroux, D, Faivre, L, Lidereau, R, Nogues, C, Bignon, YJ, Prieur, F, Collonge-Rame, MA, Venat-Bouvet, L, Fert-Ferrer, S, Miron, A, Buys, SS, Hopper, JL, Daly, MB, John, EM, Terry, MB, Goldgar, D, Hansen, TVO, Jonson, L, Ejlertsen, B, Agnarsson, BA, Offit, K, Kirchhoff, T, Vijai, J, Dutra-Clarke, AVC, Przybylo, JA, Montagna, M, Casella, C, Imyanitov, EN, Janavicius, R, Blanco, I, Lazaro, C, Moysich, KB, Karlan, BY, Gross, J, Beattie, MS, Schmutzler, R, Wappenschmidt, B, Meindl, A, Ruehl, I, Fiebig, B, Sutter, C, Arnold, N, Deissler, H, Varon-Mateeva, R, Kast, K, Niederacher, D, Gadzicki, D, Caldes, T, de la Hoya, M, Nevanlinna, H, Aittomaki, K, Simard, J, Soucy, P, Spurdle, AB, Holland, H, Chenevix-Trench, G, Easton, DF, Antoniou, AC

المصدر: Journal of the National Cancer Institute. 103(2):105-16

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121821757Test