المؤلفون: Shankar, Suma P, Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G, Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R, Schaffrath, Raffael, Alkuraya, Fowzan S, Brinkmann, Ulrich, Eriksson, Leif A, Lloyd, Kent, Rauen, Katherine A, Network, Undiagnosed Diseases, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L, Fisher, Paul G

المصدر: Genetics in Medicine. 24(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Human Genome, 2.1 Biological and endogenous factors, Adenosine Diphosphate, Animals, Histidine, Humans, Methyltransferases, Mice, Mice, Inbred C57BL, Neurodevelopmental Disorders, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Syndrome, Nonverbal neurodevelopment delays, Novel gene discovery, Precision animal modeling, Precision genomics, Translational genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9kg2s7vk
https://escholarship.org/content/qt9kg2s7vk/qt9kg2s7vk.pdf

المؤلفون: McConkie‐Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Spillmann, Rebecca C, Cope, Heidi, Tan, Queenie K‐G, Palmer, Christina GS, Hooper, Stephen R, Shashi, Vandana, Acosta, Maria T, Adam, Margaret, Adams, David R, Agrawal, Pankaj B, Alejandro, Mercedes E, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg‐Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D, Draper, David D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Findley, Laurie C, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, Godfrey, Rena A

المصدر: Journal of Genetic Counseling. 31(1)

مصطلحات موضوعية: Pediatric, Biotechnology, Human Genome, Clinical Research, Genetics, Good Health and Well Being, Child, Delivery of Health Care, Family, Genomics, Humans, Parents, Exome Sequencing, exome and genomic sequencing, undiagnosed disorders, healthcare empowerment, genetic counseling, parental perspectives, rare disorders, Undiagnosed Disease Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/76z1t0c4

المؤلفون: Elander, Johanna, McCormick, Elizabeth M, Värendh, Maria, Stenfeldt, Karin, Ganetzky, Rebecca D, Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, MacMullen, Laura E, Xiao, Rui, Falk, Marni J, Ehinger, Johannes K

المصدر: Molecular Genetics and Metabolism. 137(3):230-238

مصطلحات موضوعية: Young Adult, Humans, Child, DNA, Mitochondrial/genetics, Retrospective Studies, Mitochondrial Diseases/complications, Hearing Loss, Sensorineural/genetics, Mitochondria/genetics, Medicin och hälsovetenskap, Klinisk medicin, Oto-rhino-laryngologi, Medical and Health Sciences, Clinical Medicine, Otorhinolaryngology, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/bbdb4349-d3af-4390-ae08-f71682d49af7
http://dx.doi.org/10.1016/j.ymgme.2022.09.002

المؤلفون: Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez‐Lara, Pedro A, Del Campo, Miguel, Jones, Marilyn C, Abdul‐Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary‐Alice, Allain, Dawn C, Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K, Johnson, Amy E Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell‐Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J

المصدر: American Journal of Medical Genetics Part A. 185(6)

مصطلحات موضوعية: Congenital Structural Anomalies, Clinical Research, Brain Disorders, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Black People, Constipation, Failure to Thrive, Genetic Association Studies, Genetic Predisposition to Disease, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Hypertrichosis, Intellectual Disability, Loss of Function Mutation, Myeloid-Lymphoid Leukemia Protein, Retrospective Studies, White People, hypertrichosis, KMT2A, MLL1, syndromic intellectual disability, syndromic short stature, Wiedemann‐, Steiner syndrome, Wiedemann-Steiner syndrome, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0xp4224d

المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, 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, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, 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, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, 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 C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, 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, Habdallah, Hamza Hadj, 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, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon

المساهمون: Genetica, Genetica Sectie Research, Cancer, Child Health

مصطلحات موضوعية: General Medicine

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454122

الاتاحة: https://dspace.library.uu.nl/handle/1874/454122

المؤلفون: Kilich, Gonench, Hassey, Kelly, Behrens, Edward M., Falk, Marni, Vanderver, Adeline, Rader, Daniel J., Cahill, Patrick J., Raper, Anna, Zhang, Zhe, Westerfer, Dawn, Jadhav, Tanaya, Conlin, Laura, Izumi, Kosuke, Rajagopalan, Ramakrishnan, Sullivan, Kathleen E.

المساهمون: Foundation for the National Institutes of Health

المصدر: npj Genomic Medicine ; volume 9, issue 1 ; ISSN 2056-7944

الاتاحة: http://dx.doi.org/10.1038/s41525-023-00389-2
https://www.nature.com/articles/s41525-023-00389-2.pdf
https://www.nature.com/articles/s41525-023-00389-2

المؤلفون: Barca, Emanuele, Kroopnick, Adam, Houck, Alexander, Thakur, Kiran, Dugue, Rachelle, Zolkipli-Cunningham, Zarazuela, Falk, Marni, Goldstein, Amy, Demczko, Matthew, Gavrilova, Ralitza, Larson, Austin, Van Hove, Johan, Saneto, Russell, Buchsbaum, Richard, Thompson, John, Hirano, Michio

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000206383

المؤلفون: McGinn, Daniel, Muraresku, Colleen, Valverde, Kathleen, Falk, Marni, Ganetzky, Rebecca

المصدر: Genetics in Medicine Open ; volume 2, page 101784 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101784
https://api.elsevier.com/content/article/PII:S2949774424009300?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424009300?httpAccept=text/plain

المؤلفون: Ehinger, Johannes K., Karlsson, Michael, Sjövall, Fredrik, Leffler, Märta, McCormack, Shana E., Kubis, Sherri E., Åkesson, Anna, Falk, Marni J., Kilbaugh, Todd J.

المصدر: Pediatric Research. 90(6):1221-1227

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Anestesi och intensivvård, Medical and Health Sciences, Clinical Medicine, Anesthesiology and Intensive Care

URL الوصول: https://lup.lub.lu.se/record/ef7cb105-8a94-484c-b610-45a5700a6704
http://dx.doi.org/10.1038/s41390-021-01410-z

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/79s761gb

المؤلفون: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce H, Enns, Gregory M, Falk, Marni J, Goldstein, Amy, Gorman, Gráinne Siobhan, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D S, Saneto, Russell, Scaglia, Fernando, Servidei, Serenella, Tarnopolsky, Mark, Toscano, Antonio, Van Hove, Johan L K, Vissing, John, Vockley, Jerry, Finman, Jeffrey S, Brown, David A, Shiffer, James A, Mancuso, Michelangelo, MMPOWER-3 Trial Investigators

المساهمون: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce H, Enns, Gregory M, Falk, Marni J, Goldstein, Amy, Gorman, Gráinne Siobhan, Haas, Richard, Hirano, Michio, Klopstock, Thoma, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D S, Saneto, Russell, Scaglia, Fernando, Servidei, Serenella, Tarnopolsky, Mark, Toscano, Antonio, Van Hove, Johan L K, Vissing, John, Vockley, Jerry, Finman, Jeffrey S, Brown, David A, Shiffer, James A, Mancuso, Michelangelo, MMPOWER-3 Trial Investigators

مصطلحات موضوعية: elamipretide, primary mitochondrial myopathy, randomized clinical trial

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37268435; info:eu-repo/semantics/altIdentifier/wos/WOS:001031737700012; volume:101; issue:3; firstpage:e238; lastpage:e252; numberofpages:15; journal:NEUROLOGY; https://hdl.handle.net/11585/959848; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165222625

الاتاحة: https://hdl.handle.net/11585/959848
https://doi.org/10.1212/WNL.0000000000207402
https://www.neurology.org/doi/10.1212/WNL.0000000000207402

المؤلفون: George-Sankoh, Ibrahim, MacMullen, Laura E, Chinwalla, Asif T, Taylor, Deanne, Ganetzky, Rebecca D, Stanley, Katelynn, McCormick, Elizabeth M, Zolkipli-Cunningham, Zarazuela, Falk, Marni J

المصدر: JAMIA Open; Dec2024, Vol. 7 Issue 4, p1-10, 10p

المؤلفون: McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Pan, Alves, César Augusto Pinheiro Ferreira, Ardissone, Anna, Bai, Renkui, de Barcelos, Isabella Peixoto, Bertini, Enrico, Bluske, Krista, Christodoulou, John, Clause, Amanda R, Copeland, William C, Diaz, George A, Diodato, Daria, Dulik, Matthew C, Enns, Greg, Feigenbaum, Annette, Fratter, Carl, Ghezzi, Daniele, Goldstein, Amy, Gropman, Andrea, Haas, Richard, Karaa, Amel, Koenig, Mary Kay, Monteleone, Berrin, Parikh, Sumit, Duenas, Belen Perez, Rajkumar, Revathi, Saada, Ann, Saneto, Russell P, Sergeant, Kate, Shoffner, John, Smith, Conrad, Stanley, Christine, Thiffault, Isabelle, Thorburn, David, Walker, Melissa, Wallace, Douglas, Wong, Lee-Jun, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

المصدر: Annals of Neurology (2023) (In press).

مصطلحات موضوعية: NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdf; https://discovery.ucl.ac.uk/id/eprint/10175738/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdf
https://discovery.ucl.ac.uk/id/eprint/10175738/

المؤلفون: Mohajeri, Arezoo, Vaseghi-Shanjani, Maryam, Rosenfeld, Jill A, Yang, Gui Xiang, Lu, Henry, Sharma, Mehul, Lin, Susan, Salman, Areesha, Waqas, Meriam, Sababi Azamian, Mahshid, Worley, Kim C, Del Bel, Kate L, Kozak, Frederick K, Rahmanian, Ronak, Biggs, Catherine M, Hildebrand, Kyla J, Lalani, Seema R, Nicholas, Sarah K, Scott, Daryl A, Mostafavi, Sara, van Karnebeek, Clara, Henkelman, Erika, Halparin, Jessica, Yang, Connie L, Armstrong, Linlea, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey, Stuart E, Lehman, Anna, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvarez, Raquel L, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, TaChen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Corona, Rosario, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Falk, Marni, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Gahl, William A, Glass, Ian, Gochuico, Bernadette, Goddard, Page C, Godfrey, Rena A, Golden-Grant, Katie, Grajewski, Alana, Don Hadley, Sihoun Hahn, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P, Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N, Kohane, Isaac S, Kohler, Jennefer N, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M, Kravets, Elijah, Lam, Byron, Lam, Christina, Lanpher, Brendan C, Lanza, Ian R, LeBlanc, Kimberly, Lee, Brendan H, Levitt, Roy, Lewis, Richard A, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Mahoney, Rachel, Malicdan, MayChristine V, Mamounas, Laura A, Manolio, Teri A, Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A, Martin, Martin G, Martínez-Agosto, Julian A, Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T, McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F, Newman, John H, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pace, Laura, Pak, Stephen, Carl Pallais, J, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, PhillipsIII, John A, Posey, Jennifer E, Potocki, Lorraine, PuseySwerdzewski, Barbara N, Quinlan, Aaron, Rao, Deepak A, Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Ron Scott, C, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K, Sinsheimer, Janet S, Sisco, Kathy, Smith, Edward C, Smith, Kevin S, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C, Stoler, Joan M, Sullivan, Kathleen, Sullivan, Jennifer A, Sun, Angela, Sutton, Shirley, Sweetser, David A, Sybert, Virginia, Tabor, Holly K, Tan, Queenie K-G, Tan, Amelia LM, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Ungar, Rachel A, Urv, Tiina K, Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P, Wahl, Colleen E, Walker, Melissa, Wallace, Stephanie, Walley, Nicole M, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T, Whitlock, Jordan, Wolfe, Lynne A, Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan

مصطلحات موضوعية: Developmental defects

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/11/1092; http://dx.doi.org/10.1136/jmg-2022-109127

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/11/1092
https://doi.org/10.1136/jmg-2022-109127

المؤلفون: McCormick, Elizabeth M., Keller, Kierstin, Taylor, Julie P., Coffey, Alison J., Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J., Zolkipli‐Cunningham, Zarazuela, Rahman, Shamima

المساهمون: National Institutes of Health

المصدر: Annals of Neurology ; volume 94, issue 4, page 696-712 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.26716
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26716

المؤلفون: Haroon, Suraiya, Yoon, Heeyong, Seiler, Christoph, Osei-Frimpong, Bruce, He, Jie, Nair, Rohini M, Mathew, Neal D, Burg, Leonard, Kose, Melis, Venkata, Chavali R M, Anderson, Vernon E, Nakamaru-Ogiso, Eiko, Falk, Marni J

المساهمون: BrightFocus Foundation, Research to Prevent Blindness, The Paul and Evanina Bell Mackall Foundation Trust, Lisa Dean Moseley Foundation, National Institutes of Health, Will Woleben SURF1 Research Fund

المصدر: Human Molecular Genetics ; volume 32, issue 12, page 1988-2004 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddad031
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddad031/49523065/ddad031.pdf
https://academic.oup.com/hmg/article-pdf/32/12/1988/50654978/ddad031.pdf

المؤلفون: DiVito, Donna, Wellik, Amanda, Burfield, Jessica, Peterson, James, Flickinger, Jean, Tindall, Alyssa, Albanowski, Kimberly, Vishnubhatt, Shailee, MacMullen, Laura, Martin, Isaac, Muraresku, Colleen, McCormick, Elizabeth, George-Sankoh, Ibrahim, McCormack, Shana, Goldstein, Amy, Ganetzky, Rebecca, Yudkoff, Marc, Xiao, Rui, Falk, Marni J., Mascarenhas, Maria R., Zolkipli-Cunningham, Zarazuela

المساهمون: Children's Hospital of Philadelphia

المصدر: Neurotherapeutics ; volume 20, issue 6, page 1723-1745 ; ISSN 1878-7479

الاتاحة: http://dx.doi.org/10.1007/s13311-023-01418-9
https://link.springer.com/content/pdf/10.1007/s13311-023-01418-9.pdf
https://link.springer.com/article/10.1007/s13311-023-01418-9/fulltext.html
https://api.elsevier.com/content/article/PII:S1878747923020111?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878747923020111?httpAccept=text/plain

المؤلفون: Wang, Jing, Chan, Ada, Peterson, James, Wood, Kathleen, Diaz-Miranda, Maria Alejandra, Tara, Archana, Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, McCormick, Elizabeth M., Muraresku, Colleen, Dulik, Matthew, Wallace, Douglas, Falk, Marni

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100628 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100628
https://api.elsevier.com/content/article/PII:S2949774423006283?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423006283?httpAccept=text/plain

المؤلفون: Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu‐Wai‐Man, Patrick, Sheikh, Muniza K, Alai‐Hansen, Sherita, Cohen, Bruce H, Dimmock, David, Emrick, Lisa, Falk, Marni J, McCormack, Shana, Mirsky, David, Moore, Tony, Parikh, Sumit, Shoffner, John, Taivassalo, Tanja, Tarnopolsky, Mark, Tein, Ingrid, Odenkirchen, Joanne C, Goldstein, Amy, Participants:, on behalf of the Mito Working Group Member

المصدر: Journal of Inherited Metabolic Disease. 40(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Neurosciences, Biomedical Research, Common Data Elements, Data Collection, Humans, Mitochondrial Diseases, National Institute of Neurological Disorders and Stroke (U.S.), Nervous System Diseases, Research Design, Stroke, United States, Mito Working Group Member Participants:, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/04p1d4xt

المؤلفون: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce, Ennes, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D. S.

المصدر: Orphanet Journal of Rare Diseases; 11/21/2024, Vol. 19 Issue 1, p1-12, 12p

مصطلحات موضوعية: NUCLEAR DNA, CLINICAL trials, GENETIC variation, REPLISOMES, MITOCHONDRIAL DNA, MITOCHONDRIA