المؤلفون: Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, Randolph, Linda M.

المصدر: Genes & Diseases ; volume 11, issue 3, page 101025 ; ISSN 2352-3042

مصطلحات موضوعية: Cell Biology, Genetics (clinical), Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.gendis.2023.06.003Test
https://api.elsevier.com/content/article/PII:S2352304223002933?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352304223002933?httpAccept=text/plainTest

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

الوصول الحر: https://escholarship.org/uc/item/8m17h094Test

المؤلفون: Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan

المصدر: European Journal of Human Genetics. 23(5)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Clinical Research, Rare Diseases, Adolescent, Adult, Child, Child, Preschool, Chromosome Aberrations, Consanguinity, Family, Female, Genes, Recessive, Genetic Association Studies, Genetic Predisposition to Disease, Homozygote, Humans, Incidence, Inflammatory Bowel Diseases, Male, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Young Adult, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5zs0k50hTest

المؤلفون: Harmatz, Paul R, Garcia, Paula, Guffon, Nathalie, Randolph, Linda M, Shediac, Renée, Braunlin, Elizabeth, Lachman, Ralph S, Decker, Celeste

المصدر: Journal of Inherited Metabolic Disease. 37(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Patient Safety, Clinical Research, Pediatric, Clinical Trials and Supportive Activities, Prevention, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Dose-Response Relationship, Drug, Drug Administration Schedule, Enzyme Replacement Therapy, Humans, Infant, Infusions, Intravenous, Male, Mucopolysaccharidosis VI, N-Acetylgalactosamine-4-Sulfatase, Recombinant Proteins, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3h57916nTest

المؤلفون: Garcia, Paula, Phillips, Dawn, Johnson, JoAnn, Martin, Kenneth, Randolph, Linda M., Rosenfeld, Howard, Harmatz, Paul

المساهمون: BioMarin Pharmaceutical Inc

المصدر: Molecular Genetics and Metabolism ; volume 133, issue 1, page 100-108 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.03.006Test
https://api.elsevier.com/content/article/PII:S1096719221000615?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719221000615?httpAccept=text/plainTest

المؤلفون: Crawford, Samuel A., Gong, Cynthia L., Yieh, Leah, Randolph, Linda M., Hay, Joel W.

المصدر: Genetics in Medicine ; volume 23, issue 10, page 1854-1863 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01210-0Test
https://www.nature.com/articles/s41436-021-01210-0.pdfTest
https://www.nature.com/articles/s41436-021-01210-0Test
https://api.elsevier.com/content/article/PII:S1098360021051248?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021051248?httpAccept=text/plainTest

المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R, Zhou, Yijing, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlíková Pourová, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Boycott, Kym M, Towne, Meghan C, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith S, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond J, Lyons, Michael J, Douglas, Jessica, Nowak, Catherine B, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Rabani, Ahna M, McCormick, Elizabeth M, Falk, Marni, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Tessarollo, Lino, Tomassoni-Ardori, Francesco, Palko, Mary Ellen, Hsieh, Tzung-Chien, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Ange-Line, Bruel, Quelin, Chloé, Misra, Vinod K, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan J, Randolph, Linda M, Spillmann, Rebecca C, Shashi, Vandana, Higginbotham, Edward J, Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Tran Mau-Them, Frederic, Fernandez Garcia Moya, Luis, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O, Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Hadj Abdallah, Hamza, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K, Biswas, Sunita, Rosser, Jane Mr, Shoubridge, Cheryl, Corbett, Mark A, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen A, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert Ba, van Slegtenhorst, Marjon A, Brooks, Alice S, Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H, Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon

المساهمون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R, Zhou, Yijing, Bosch, Daniëlle Gm, van Haaften, Gij, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlíková Pourová, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Boycott, Kym M, Towne, Meghan C, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith S, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond J, Lyons, Michael J, Douglas, Jessica, Nowak, Catherine B, Afenjar, Alexandra, Hoyer, Juliane, Keren, Bori, Maas, Saskia M, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Rabani, Ahna M, Mccormick, Elizabeth M, Falk, Marni, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Tessarollo, Lino, Tomassoni-Ardori, Francesco, Palko, Mary Ellen, Hsieh, Tzung-Chien, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Ange-Line, Bruel, Quelin, Chloé, Misra, Vinod K, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan J, Randolph, Linda M, Spillmann, Rebecca C, Shashi, Vandana

مصطلحات موضوعية: Development, Genetic disease, Genetic, Neurodevelopment, iPS cells

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37962958; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11591/515288Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85181539861

الإتاحة: https://doi.org/10.1172/JCI171235Test
https://hdl.handle.net/11591/515288Test

المؤلفون: Davidson, Tom B, Sanchez-Lara, Pedro A, Randolph, Linda M, Krieger, Mark D, Wu, Shi-Qi, Panigrahy, Ashok, Shimada, Hiroyuki, Erdreich-Epstein, Anat

المصدر: BMC Medical Genetics. 13(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0vx445vvTest

المؤلفون: AbdAlmageed, Wael, Mirzaalian, Hengameh, Guo, Xiao, Randolph, Linda M., Tanawattanacharoen, Veeraya K., Geffner, Mitchell E., Ross, Heather M., Kim, Mimi S.

المصدر: JAMA Network Open ; volume 3, issue 11, page e2022199 ; ISSN 2574-3805

الإتاحة: https://doi.org/10.1001/jamanetworkopen.2020.22199Test
https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2773071/abdalmageed_2020_oi_200748_1605044908.35579.pdfTest

المؤلفون: Jackson, Sha-Ron, Guner, Yigit S, Woo, Russell, Randolph, Linda M, Ford, Henri, Shin, Cathy E

المصدر: Pediatric Surgery International. 25(9)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Clinical Sciences, Prevention, Neurosciences, Congenital Structural Anomalies, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Codon, Nonsense, Genetic Diseases, X-Linked, Hirschsprung Disease, Humans, Hydrocephalus, Infant, Male, Neural Cell Adhesion Molecule L1, Hirschsprung's disease, Constipation, Neonate, Paediatrics and Reproductive Medicine, Pediatrics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5hd9s92tTest