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1دورية أكاديمية
المؤلفون: Rachel Burnside, Petr Starostik, Megan Boothe, Heather Stalker, Pamela Trapane
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101372- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M
المصدر: Genetics in Medicine. 21(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Rare Diseases, Neurofibromatosis, Clinical Research, Neurosciences, Brain Disorders, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Learning Disabilities, Male, Mutation, Missense, Neurofibroma, Plexiform, Neurofibromatosis 1, Neurofibromin 1, Sequence Deletion, Young Adult, NF1, p.Met992del, genotype-phenotype correlation, neurofibroma, learning difficulties, genotype–phenotype correlation, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8m17h094
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4دورية أكاديمية
المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha, Aylsworth, Arthur, Azizi, Amedeo, Basel, Donald, Bellus, Gary, Bird, Lynne, Blazo, Maria, Burke, Leah, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria, Dills, Shelley, Dosa, Laura, Greenwood, Robert, Griffis, Cristin, Gupta, Punita, Hachen, Rachel, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi, Jordan, Justin, Kannu, Peter, Korf, Bruce, Lewis, Andrea, Listernick, Robert, Lonardo, Fortunato, Mahoney, Maurice, Ojeda, Mayra, McDonald, Marie, McDougall, Carey, Mendelsohn, Nancy, Miller, David, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary, Piscopo, Carmelo, Pond, Dinel, Randolph, Linda, Rauen, Katherine, Rednam, Surya, Rutledge, S, Saletti, Veronica, Schaefer, G, Schorry, Elizabeth, Scott, Daryl, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois, Syed, Ashraf, Trapane, Pamela, Ullrich, Nicole, Wakefield, Emily, Walsh, Laurence, Wangler, Michael, Zackai, Elaine, Claes, Kathleen, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
المصدر: Genetics in Medicine. 21(3)
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8m17h094
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5دورية أكاديمية
المؤلفون: Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky
المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100931- (2022)
مصطلحات موضوعية: Malate dehydrogenase, MDH2, Mitochondrial malate dehydrogenase, TCA cycle, Epileptic encephalopathy, Leigh syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المصدر: Clinical Case Reports, Vol 9, Iss 4, Pp 2340-2344 (2021)
مصطلحات موضوعية: long‐term survival, mosaic trisomy 9, pseudo‐isodicentric chromosome 9, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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7دورية أكاديمية
المؤلفون: Ng, Bobby G, Shiryaev, Sergey A, Rymen, Daisy, Eklund, Erik A, Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E, Alehan, Fusun, Midro, Alina T, Bamshad, Michael J, Barone, Rita, Berry, Gerard T, Brumbaugh, Jane E, Buckingham, Kati J, Clarkson, Katie, Cole, F Sessions, O'Connor, Shawn, Cooper, Gregory M, Coster, Rudy, Demmer, Laurie A, Diogo, Luisa, Fay, Alexander J, Ficicioglu, Can, Fiumara, Agata, Gahl, William A, Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A, He, Miao, Jaeken, Jaak, James, Philip M, Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J, Lachlan, Katherine, Lam, Christina, Yaplito‐Lee, Joy, Nickerson, Deborah A, Peters, Heidi L, Race, Valerie, Régal, Luc, Rush, Jeffrey S, Rutledge, S Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E, Trapane, Pamela, Sanchez‐Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J, Wang, Raymond Y, Wolfe, Lynne A, Wong, Derek A, Wood, Tim, Yang, Amy C, Genomics, University of Washington Center for Mendelian, Matthijs, Gert, Freeze, Hudson H
المصدر: Human Mutation. 37(7)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Clinical Research, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Aetiology, Biomarkers, Congenital Disorders of Glycosylation, Female, Genes, Lethal, Glycosylation, Humans, Male, Mannosyltransferases, Mutation, Polysaccharides, Sequence Analysis, DNA, Survival Analysis, CDG, asparagine-linked glycosylation protein 1, carbohydrate-deficient transferrin, xeno-tetrasaccharide, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5bt1h53p
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8دورية أكاديمية
المؤلفون: Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G
المصدر: Human Mutation. 31(10)
مصطلحات موضوعية: Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6z17j09n
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9دورية أكاديمية
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10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.