المؤلفون: Kontaridis, Maria I, Roberts, Amy E, Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Andelfinger, Gregor, Aoki, Yoko, Axelrad, Marni E, Bakker, Annette, Bennett, Anton M, Broniscer, Alberto, Castel, Pau, Chang, Caitlin A, Cyganek, Lukas, Das, Tirtha K, Hertog, Jeroen, Galperin, Emilia, Garg, Shruti, Gelb, Bruce D, Gordon, Kristiana, Green, Tamar, Gripp, Karen W, Itkin, Maxim, Kiuru, Maija, Korf, Bruce R, Livingstone, Jeff R, López‐Juárez, Alejandro, Magoulas, Pilar L, Mansour, Sahar, Milner, Theresa, Parker, Elisabeth, Pierpont, Elizabeth I, Plouffe, Kevin, Rauen, Katherine A, Shankar, Suma P, Smith, Shane B, Stevenson, David A, Tartaglia, Marco, Van, Richard, Wagner, Morgan E, Ware, Stephanie M, Zenker, Martin

المصدر: American Journal of Medical Genetics Part A. 188(6)

مصطلحات موضوعية: Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Costello Syndrome, Humans, Mitogen-Activated Protein Kinases, Noonan Syndrome, Signal Transduction, ras Proteins, cardiofaciocutaneus syndrome, Costello syndrome, neurofibromatosis, Noonan syndrome, RASopathy, signaling, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44s997fh
https://escholarship.org/content/qt44s997fh/qt44s997fh.pdf

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: PIERPONT, Elizabeth I, BENNETT, Anton M, SCHOYER, Lisa, STRONACH, Beth, ANSCHUTZ, April, BORRIE, Sarah C, BRIGGS, Benjamin, BURKITT-WRIGHT, Emma, CASTEL, Pau, CIRSTEA, Ion C, DRAAISMA, Fieke, ELLIS, Michelle, FEAR, Vanessa S, FRONE, Megan N, FLEX, Elisabetta, GELB, Bruce D, GREEN, Tamar, GRIPP, Karen W, KHOSHKHOO, Sattar, KIERAN, Mark W, KLEEMANN, Karolin, KLEIN-TASMAN, Bonita P, KONTARIDIS, Maria I, KRUSZKA, Paul, LEONI, Chiara, LIU, Clifford Z, MERCHANT, Nadia, MAGOULAS, Pilar L, MOERTEL, Christopher, PRADA, Carlos E, RAUEN, Katherine A, ROELOFS, Renée, ROSSIGNOL, Rodrigue, SEVILLA, Christine, SEVILLA, Gigi, SHEEDY, Ryan, STIEGLITZ, Elliot, SUN, Daochun, TIEMENS, Dagmar, WHITE, Forest, WINGBERMÜHLE, Ellen, WOLF, Cordula, ZENKER, Martin, ANDELFINGER, Gregor

مصطلحات موضوعية: Humans, ras Proteins, MAP Kinase Signaling System, Costello Syndrome, Neoplasms, Ectodermal Dysplasia, Noonan Syndrome, Heart Defects, Congenital, Sciences du Vivant [q-bio]/Génétique

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/200957

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/200957
https://hdl.handle.net/20.500.12278/200957
https://doi.org/10.1002/ajmg.a.63477

المؤلفون: Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier

المساهمون: NIH, NHGRI, Takeda Science Foundation, AMED, National Research Foundation of Korea

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 487-508 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.01.007
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/plain

المؤلفون: Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata JM, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, Zarate, Yuri A

المصدر: American Journal of Human Genetics. 108(1)

مصطلحات موضوعية: Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14k5b9qx

المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark

المصدر: Genetics in Medicine. 22(5)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Mental Health, Rare Diseases, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Child, Female, GATA Transcription Factors, Humans, Intellectual Disability, Megalencephaly, Neurodevelopmental Disorders, Nucleosomes, Phenotype, Pregnancy, Repressor Proteins, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Undiagnosed Diseases Network, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7683d0mf
https://escholarship.org/content/qt7683d0mf/qt7683d0mf.pdf

المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark

المصدر: Genetics in Medicine. 22(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/53c7t7b0
https://escholarship.org/content/qt53c7t7b0/qt53c7t7b0.pdf

المؤلفون: Gross, Andrea M, Frone, Megan, Gripp, Karen W, Gelb, Bruce D, Schoyer, Lisa, Schill, Lisa, Stronach, Beth, Biesecker, Leslie G, Esposito, Dominic, Hernandez, Edjay Ralph, Legius, Eric, Loh, Mignon L, Martin, Staci, Morrison, Deborah K, Rauen, Katherine A, Wolters, Pamela L, Zand, Dina, McCormick, Frank, Savage, Sharon A, Stewart, Douglas R, Widemann, Brigitte C, Yohe, Marielle E

المصدر: American Journal of Medical Genetics Part A. 182(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Cardiovascular, Orphan Drug, Congenital Structural Anomalies, Pediatric Cancer, Clinical Research, Heart Disease, Neurosciences, Genetics, Neurofibromatosis, Cancer, Congenital Heart Disease, Rare Diseases, Prevention, 2.1 Biological and endogenous factors, Biomarkers, Tumor, Costello Syndrome, Ectodermal Dysplasia, Facies, Failure to Thrive, Heart Defects, Congenital, Humans, Intersectoral Collaboration, Molecular Targeted Therapy, Mutation, National Cancer Institute (U.S.), Neurofibromatosis 1, Noonan Syndrome, Research Report, Signal Transduction, United States, ras Proteins, cardiofaciocutaneous syndrome, Costello syndrome, Noonan syndrome, Ras, MAP kinase pathway, RASopathies, Ras/MAP kinase pathway, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/24m6f4pf
https://escholarship.org/content/qt24m6f4pf/qt24m6f4pf.pdf

المؤلفون: Gripp, Karen W, Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Bennett, Anton M, Blaser, Susan, Brown, Amanda, Burdine, Rebecca, Burkitt-Wright, Emma, Castel, Pau, Darilek, Sandra, Dias, Alwyn, Dyer, Tuesdi, Ellis, Michelle, Erickson, Gregg, Gelb, Bruce D, Green, Tamar, Gross, Andrea, Ho, Alan, Holder, James Lloyd, Inoue, Shin-Ichi, Jelin, Angie C, Kennedy, Annie, Klein, Richard, Kontaridis, Maria I, Magoulas, Pilar, McConnell, Darryl B, McCormick, Frank, Neel, Benjamin G, Prada, Carlos E, Rauen, Katherine A, Roberts, Amy, Rodriguez-Viciana, Pablo, Rosen, Neal, Rumbaugh, Gavin, Sablina, Anna, Solman, Maja, Tartaglia, Marco, Thomas, Angelica, Timmer, William C, Venkatachalam, Kartik, Walsh, Karin S, Wolters, Pamela L, Yi, Jae-Sung, Zenker, Martin, Ratner, Nancy

المصدر: American journal of medical genetics. Part A. 182(3)

مصطلحات موضوعية: Humans, Genetic Diseases, Inborn, ras Proteins, Mitogen-Activated Protein Kinase Kinases, Signal Transduction, Germ-Line Mutation, Costello syndrome, Noonan syndrome, RASopathy, cardio-facio-cutaneous syndrome, kinases, neurofibromatosis, Rare Diseases, Genetics, Good Health and Well Being, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5628r91h

المؤلفون: Gripp, Karen W, Morse, Lindsey A, Axelrad, Marni, Chatfield, Kathryn C, Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E, Schwartz, David D, Sibbles, Barbara J, Siegel, Dawn, Shankar, Suma P, Stevenson, David A, Thacker, Mihir M, Weaver, K Nicole, White, Sue M, Rauen, Katherine A

المصدر: American journal of medical genetics. Part A. 179(9)

مصطلحات موضوعية: Face, Heart, Humans, Heart Defects, Congenital, Abnormalities, Multiple, Developmental Disabilities, Gene Expression Regulation, Genotype, Phenotype, Germ-Line Mutation, Disease Management, Proto-Oncogene Proteins p21(ras), Guidelines as Topic, Costello Syndrome, Costello syndrome, HRAS mutation, RAS/MAPK, RASopathy, management guidelines, Genetics, Pediatric, Congenital Structural Anomalies, Health Services, Clinical Research, Management of diseases and conditions, 7.3 Management and decision making, Good Health and Well Being, RAS, MAPK, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5q11s47s

المؤلفون: Gurovich, Yaron, Hanani, Yair, Bar, Omri, Fleischer, Nicole, Gelbman, Dekel, Basel-Salmon, Lina, Krawitz, Peter, Kamphausen, Susanne B, Zenker, Martin, Bird, Lynne M., Gripp, Karen W.

مصطلحات موضوعية: Computer Science - Computer Vision and Pattern Recognition

URL الوصول: http://arxiv.org/abs/1801.07637

المؤلفون: Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St-Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D.M., Braakman, Hilde M.H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.

المصدر: Journal of Inherited Metabolic Disease. 43(6):1321-1332

مصطلحات موضوعية: epileptic encephalopathy, exome sequencing, GPI, IGD, PIGQ, rare diseases, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences

URL الوصول: https://lup.lub.lu.se/record/6ef070d0-a2d7-4b12-a18c-a9170d2b7094
http://dx.doi.org/10.1002/jimd.12278

المؤلفون: Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan J., McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad Abou, Zhe, Zhang, Abdul-Rahman, Omar, Allen, Bill, Angula, Moris A., Anyane-Yeboa, Kwame, Argente, Jesús, Arn, Pamela H., Armstrong, Linlea, Basel-Salmon, Lina, Baynam, Gareth, Bird, Lynne M., Bruegger, Daniel, Ch'ng, Gaik-Siew, Chitayat, David, Clark, Robin, Cox, Gerald F., Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham Jr, John M., Gripp, Karen W., Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert J., Jones, Kenneth L., Jones, Marilyn C., Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally Ann, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia M., Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan F., Sangha, Karan, Scheuerle, Angela E., Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia G., White, Susan M., Young, Terri, Loomes, Kathleen M., Pipan, Mary, Harrington, Ann Tokay, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew A., McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie D., Izumi, Kosuke, Raible, Sarah E., Krantz, Ian D.

وصف الملف: application/pdf

Relation: http://zaguan.unizar.es/record/127785

الاتاحة: http://zaguan.unizar.es/record/127785
https://doi.org/10.1002/ajmg.a.63247

المؤلفون: Johnstone, Devon L., Thi, Tuyet, Zambonin, Jessica, Kernohan, Kristin D., St-Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.

المصدر: Johnstone , D L , Thi , T , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Gripp , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , McMillan , H ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/595d8920-8bbf-4e72-8dca-a8e0657c8c0d

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/595d8920-8bbf-4e72-8dca-a8e0657c8c0d
https://doi.org/10.1002/jimd.12362

المؤلفون: Accogli, Andrea, Lin, Sheng Jia, Severino, Mariasavina, Kim, Sung Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha S., Al-Maawali, Almundher, Srinivasan, Varunvenkat M., Al-Thihli, Khalid, Schaefer, G. Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M., Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L., Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Sawyer, Lindsey B., Basinger, Alice A., Pedersen, Signe Vandal, Pearson, Toni S., Grange, Dorothy K., Lingappa, Lokesh, McDunnah, Paige, Horvath, Rita, Cognè, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen W., Jafarnejad, Seyed Mehdi, Østergaard, Elsebet, Prada, Carlos E., Ghezzi, Daniele, Gowda, Vykuntaraju K., Taylor, Robert W., Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K., Maroofian, Reza

المصدر: Accogli , A , Lin , S J , Severino , M , Kim , S H , Huang , K , Rocca , C , Landsverk , M , Zaki , M S , Al-Maawali , A , Srinivasan , V M , Al-Thihli , K , Schaefer , G B , Davis , M , Tonduti , D , Doneda , C , Marten , L M , Mühlhausen , C , Gomez , M , Lamantea , E , Mena , R , Nizon , M , Procaccio , V , Begtrup , A , Telegrafi ....

مصطلحات موضوعية: Cerebellar atrophy, Mitochondrial dysfunction, Mitochondrial threonyl-tRNA-synthetase, mTORC1 signaling, TARS2

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/clinical-neuroradiological-and-molecular-characterization-of-mitochondrial-threonyltrnasynthetase-tars2related-disorder(0806d695-1db0-45a7-bb1e-bcb67bbf0c9e).html
https://doi.org/10.1016/j.gim.2023.100938
https://curis.ku.dk/ws/files/375194800/1_s2.0_S1098360023009516_main_1_.pdf

المؤلفون: Wadman, Erin, Fernandes, Erica, Muss, Candace, Powell-Hamilton, Nina, Wojcik, Monica H., Madden, Jill A., Carreon, Chrystalle Katte, Clark, Robin D., Stenftenagel, Annie, Chikalard, Kamal, Kimonis, Virginia, Brucker, William, Alves, Carolina, Gripp, Karen W.

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100834 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100834
https://api.elsevier.com/content/article/PII:S2949774423008439?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423008439?httpAccept=text/plain

المؤلفون: Wadman, Erin, Fernandes, Erica, Powell-Hamilton, Nina, Muss, Candace, Alves, Carolina, Gripp, Karen W.

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100371 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100371
https://api.elsevier.com/content/article/PII:S2949774423003710?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423003710?httpAccept=text/plain

المؤلفون: Zepeda-Mendoza, Cinthya J, Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J, Rita, Debra, Gripp, Karen W, MacKenzie, Jennifer J, Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S, Brasington, Campbell K, Spence, Edward J, Masser-Frye, Diane, Bird, Lynne M, Spiegel, Erica, Sparkes, Rebecca L, Ordulu, Zehra, Talkowski, Michael E, Andrade-Navarro, Miguel A, Robinson, Peter N, Morton, Cynthia C

المصدر: American Journal of Human Genetics. 101(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Chromosomal Position Effects, Chromosome Breakpoints, Chromosome Mapping, Chromosomes, Human, Gene Expression Regulation, Gene Rearrangement, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, In Situ Hybridization, Fluorescence, Karyotype, Phenotype, Translocation, Genetic, HPO, balanced chromosomal rearrangement, chromatin conformation, chromosomal rearrangement, chromosomal translocation, clinical genetics, cytogenetics, diagnosis, distal effect, long-range effect, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2d76c6kq

المؤلفون: Stevenson, David A, Schill, Lisa, Schoyer, Lisa, Andresen, Brage S, Bakker, Annette, Bayrak-Toydemir, Pinar, Burkitt-Wright, Emma, Chatfield, Kathryn, Elefteriou, Florent, Elgersma, Ype, Fisher, Michael J, Franz, David, Gelb, Bruce D, Goriely, Anne, Gripp, Karen W, Hardan, Antonio Y, Keppler-Noreuil, Kim M, Kerr, Bronwyn, Korf, Bruce, Leoni, Chiara, McCormick, Frank, Plotkin, Scott R, Rauen, Katherine A, Reilly, Karlyne, Roberts, Amy, Sandler, Abby, Siegel, Dawn, Walsh, Karin, Widemann, Brigitte C

المصدر: American Journal of Medical Genetics Part A. 170(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Congenital Structural Anomalies, Neurosciences, Rare Diseases, Pediatric, Congenital, Capital Financing, Clinical Trials as Topic, Family, Genetic Diseases, Inborn, Humans, Intersectoral Collaboration, Mitogen-Activated Protein Kinases, Signal Transduction, ras Proteins, RASopathy, Ras, MAPK, cancer, rare disorders, clinical trials, experimental models, Ras/MAPK, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/42d8r4pn

المؤلفون: Huang, Lijia, Vanstone, Megan R, Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A, Dipple, Katrina M, Dobyns, William B, Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P, Goel, Himanshu, Gregersen, Pernille A, Gripp, Karen W, Grix, Art, Guion‐Almeida, Maria‐Leine, Harr, Margaret H, Hudson, Cindy, Hunter, Alasdair GW, Johnson, John, Joss, Shelagh K, Kimball, Amy, Kini, Usha, Kline, Antonie D, Lauzon, Julie, Lildballe, Dorte L, López‐González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M, Morel, Chantal F, Morton, Jenny EV, Pyle, Louise C, Quintero‐Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E, Schönewolf‐Greulich, Bitten, Shears, Deborah J, Silver, Josh, Smith, Amanda C, Temple, I Karen, Center, UCLA Clinical Genomics, de Kamp, Jiddeke M, Dijk, Fleur S, Vandersteen, Anthony M, White, Sue M, Zackai, Elaine H, Zou, Ruobing, Consortium, Care4Rare Canada, Bulman, Dennis E, Boycott, Kym M, Lines, Matthew A

المصدر: Human Mutation. 37(2)

مصطلحات موضوعية: Pediatric, Congenital Structural Anomalies, Rare Diseases, Genetics, Prevention, Human Genome, Neurosciences, Clinical Research, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Amino Acid Motifs, Databases, Genetic, Gene Expression, Haploinsufficiency, Hearing Loss, Humans, Intellectual Disability, Mandibulofacial Dysostosis, Microcephaly, Models, Molecular, Molecular Sequence Data, Mutation, Penetrance, Peptide Elongation Factors, Phenotype, Protein Structure, Secondary, Protein Structure, Tertiary, RNA Splicing, Ribonucleoprotein, U5 Small Nuclear, Spliceosomes, EFTUD2, mandibulofacial dysostosis with microcephaly, MFDM, mandibulofacial dysostosis Guion-Almeida type, mandibulofacial dysostosis, microcephaly, UCLA Clinical Genomics Center, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7bf8s425