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1دورية أكاديمية
المؤلفون: Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, Arboleda, Valerie A
المصدر: Molecular Genetics & Genomic Medicine. 9(10)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9ct9z1smTest
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2دورية أكاديمية
المؤلفون: Agrawal, Pankaj B, Wang, Ruobing, Li, Hongmei Lisa, Schmitz-Abe, Klaus, Simone-Roach, Chantelle, Chen, Jingxin, Shi, Jiahai, Louie, Tin, Sheng, Shaohu, Towne, Meghan C, Brainson, Christine F, Matthay, Michael A, Kim, Carla F, Bamshad, Michael, Emond, Mary J, Gerard, Norma P, Kleyman, Thomas R, Gerard, Craig
المصدر: American Journal of Respiratory Cell and Molecular Biology. 57(6)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Orphan Drug, Cystic Fibrosis, Rare Diseases, Pediatric, Lung, 2.1 Biological and endogenous factors, Aetiology, Congenital, Amino Acid Sequence, Animals, Cystic Fibrosis Transmembrane Conductance Regulator, Epithelial Sodium Channels, Female, Humans, Male, Sequence Deletion, Xenopus, Xenopus laevis, cystic fibrosis, ENaC, epithelial sodium channel, genetic modifier, SCNN1D, Cardiorespiratory Medicine and Haematology, Respiratory System, Biochemistry and cell biology, Cardiovascular medicine and haematology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9474166tTest
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3دورية أكاديمية
المؤلفون: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle
المصدر: American Journal of Human Genetics. 101(5)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, 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/9gc6k2mkTest
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4دورية أكاديمية
المؤلفون: Schiller, Julia, Towne, Meghan C., Epstein, Rachel, Thornton, Jennifer Karlin, Suslovitch, Victoria
المصدر: Journal of Genetic Counseling; Apr2024, Vol. 33 Issue 2, p301-313, 13p
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5دورية أكاديمية
المؤلفون: Iwata-Otsubo, Aiko, Skraban, Cara M., Yoshimura, Atsunori, Sakata, Toyonori, Alves, Cesar Augusto P., Fiordaliso, Sarah K., Kuroda, Yukiko, Vengoechea, Jaime, Grochowsky, Angela, Ernste, Paige, Lulis, Lauren, Nesbitt, Addie, Tayoun, Ahmad Abou, Gray, Christopher, Towne, Meghan C., Radtke, Kelly, Normand, Elizabeth A., Rhodes, Lindsay, Seiler, Christoph, Shirahige, Katsuhiko
المصدر: Human Genetics; Mar2024, Vol. 143 Issue 3, p437-453, 17p
مصطلحات موضوعية: RNA polymerases, TRANSFER RNA, LYMPHOBLASTOID cell lines, GROWTH disorders, TRANSCRIPTION factors, FACIAL abnormalities
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6دورية أكاديمية
المؤلفون: Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco
المصدر: Radio , F C , Pang , K , Ciolfi , A , Levy , M A , Hernández-García , A , Pedace , L , Pantaleoni , F , Liu , Z , de Boer , E , Jackson , A , Bruselles , A , McConkey , H , Stellacci , E , Lo Cicero , S , Motta , M , Carrozzo , R , Dentici , M L , McWalter , K , Desai , M , Monaghan , K G , Telegrafi , A , Philippe , C , Vitobello , A , Au ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.015Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test
https://pure.eur.nl/ws/files/53889029/SPEN_haploinsufficiency_causes_a_neurodevelopmental_disorder_overlapping_proximal_1p36_deletion_syndrome_with_an_episignature_of_X_chromosomes_in_females.pdfTest
http://www.scopus.com/inward/record.url?scp=85101770406&partnerID=8YFLogxKTest -
7دورية أكاديمية
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
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8دورية أكاديمية
المؤلفون: Rehm, Heidi L, Alaimo, Joseph T, Aradhya, Swaroop, Bayrak-Toydemir, Pinar, Best, Hunter, Brandon, Rhonda, Buchan, Jillian G, Chao, Elizabeth C, Chen, Elaine, Clifford, Jacob, Cohen, Ana S A, Conlin, Laura K, Das, Soma, Davis, Kyle W, Del Gaudio, Daniela, Del Viso, Florencia, DiVincenzo, Christina, Eisenberg, Marcia, Guidugli, Lucia, Hammer, Monia B, Harrison, Steven M, Hatchell, Kathryn E, Dyer, Lindsay Havens, Hoang, Lily U, Holt, James M, Jobanputra, Vaidehi, Karbassi, Izabela D, Kearney, Hutton M, Kelly, Melissa A, Kelly, Jacob M, Kluge, Michelle L, Komala, Timothy, Kruszka, Paul, Lau, Lynette, Lebo, Matthew S, Marshall, Christian R, McKnight, Dianalee, McWalter, Kirsty, Meng, Yan, Nagan, Narasimhan, Neckelmann, Christian S, Neerman, Nir, Niu, Zhiyv, Paolillo, Vitoria K, Paolucci, Sarah A, Perry, Denise, Pesaran, Tina, Radtke, Kelly, Rasmussen, Kristen J, Retterer, Kyle, Saunders, Carol J, Spiteri, Elizabeth, Stanley, Christine, Szuto, Anna, Taft, Ryan J, Thiffault, Isabelle, Thomas, Brittany C, Thomas-Wilson, Amanda, Thorpe, Erin, Tidwell, Timothy J, Towne, Meghan C, Zouk, Hana
المصدر: Genet Med ; ISSN:1530-0366 ; Volume:25 ; Issue:12
مصطلحات موضوعية: Laboratory reporting methods, Multi-gene panels, VUS, Variants of uncertain significance
العلاقة: https://doi.org/10.1016/j.gim.2023.100947Test; https://pubmed.ncbi.nlm.nih.gov/37534744Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10825061Test/
الإتاحة: https://doi.org/10.1016/j.gim.2023.100947Test
https://pubmed.ncbi.nlm.nih.gov/37534744Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10825061Test/ -
9دورية أكاديمية
المؤلفون: Schiller, Julia, Towne, Meghan C., Epstein, Rachel, Thornton, Jennifer Karlin, Suslovitch, Victoria
المساهمون: School of Medicine, Boston University
المصدر: Journal of Genetic Counseling ; volume 33, issue 2, page 301-313 ; ISSN 1059-7700 1573-3599
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10كتاب
المؤلفون: Wojcik, Monica H., Wierenga, Klaas J., Rodan, Lance H., Sahai, Inderneel, Ferdinandusse, Sacha, Genetti, Casie A., Towne, Meghan C., Peake, Roy W.A., James, Philip M., Beggs, Alan H., Brownstein, Catherine A., Berry, Gerard T., Agrawal, Pankaj B.
المساهمون: New England Newborn Screening Program, Department of Pediatrics, Division of Pediatric Genetics
المصدر: JIMD reports
مصطلحات موضوعية: 3-Ketothiolase, 3-Oxothiolase, Beta-ketothiolase, Ketoacidosis, Metabolic stroke, Mitochondrial acetoacetyl-coenzyme A thiolase, Organic acidemia, T2, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Medical Genetics, Pediatrics
العلاقة: Link to Article in PubMed; https://doi.org/10.1007/8904_2017_45Test; JIMD Rep. 2017 Jul 20. doi:10.1007/8904_2017_45. Link to article on publisher's site; 2192-8304 (Linking); http://hdl.handle.net/20.500.14038/43594Test; https://escholarship.umassmed.edu/peds_pp/164Test; peds_pp/164
الإتاحة: https://doi.org/10.1007/8904_2017_4520.500.14038/43594Test
https://hdl.handle.net/20.500.14038/43594Test
https://escholarship.umassmed.edu/peds_pp/164Test