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1Academic Journal
المؤلفون: Karayol, Remzi, Borroto, Maria, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea, Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann, Mulligan, Meghan, Bicknell, Louise, Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie, van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid, Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin, Shashi, Vandana, Sullivan, Jennifer, Peron, Angela, Iascone, Maria, Canevini, Maria, Friedman, Jennifer, Reyes, Iris, Kierstein, Janell, Shen, Joseph, Ahmed, Faria, Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna, Monaghan, Kristin, Rousseau, Justine, Myers, Kenneth, Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe
المصدر: American Journal of Human Genetics. 111(7)
مصطلحات موضوعية: MSL2, autism, connective tissue, epigenetics, epilepsy, episignature, iPSC, male-specific lethal complex, neurodevelopmental syndrome, Adolescent, Child, Child, Preschool, Female, Humans, Male, Developmental Disabilities, DNA Methylation, Epigenesis, Genetic, Epilepsy, Histones, Induced Pluripotent Stem Cells, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, Ubiquitin-Protein Ligases
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Hardcastle, Amy, Berry, Aliska, Campbell, Ian, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda, Rosenfeld, Jill, Sisoudiya, Saumya, Hernandez-Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria, Capolino, Rossella, Digilio, Maria, Graziani, Ludovico, Rustad, Cecilie, Neas, Katherine, Ferrero, Giovanni, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic, Dean, John, Giuffrida, Maria, Bernardini, Laura, Varghese, Vinod, Shannon, Nora, Harrison, Rachel, Lam, Wayne, McKee, Shane, Turnpenny, Peter, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad, Chung, Wendy, Scott, Daryl, Jones, Marilyn
المصدر: American Journal of Medical Genetics Part A. 188(10)
مصطلحات موضوعية: CREBBP, DECIPHER database, SMARCA4, UBA2, USP9X, congenital diaphragmatic hernia, Animals, DNA Copy Number Variations, Diaphragm, Hernias, Diaphragmatic, Congenital, Mice
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0643544f
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3Academic Journal
المؤلفون: Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E
المصدر: Genome medicine. 13(1)
مصطلحات موضوعية: CAUSES Study, SPARK Consortium, Cortex development, Gene families, Neurodevelopmental disorders, hnRNPs, Genetics, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9ff2t46d
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4Academic Journal
المؤلفون: Schmid, Cosima M, Gregor, Anne, Ruiz, Anna, Manso Bazús, Carmen, Herman, Isabella, Ammouri, Farah, Kotzaeridou, Urania, McNiven, Vanda, Dupuis, Lucie, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita, Suter, Aude-Annick, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Haack, Tobias B, Falb, Ruth J, Müller, Amelie J, Linden, Tobias, Haldeman-Englert, Chad R, Ockeloen, Charlotte W, Mattioli, Francesca, Reymond, Alexandre, Ibrahim, Nazia, Naz, Shagufta, Lacaze, Elodie, Bassetti, Jennifer Alisha, Hoefele, Julia, Brunet, Theresa, Riedhammer, Korbinian M, Elloumi, Houda Z, Person, Richard, Zou, Fanggeng, Kahle, Juliette J, Cremer, Kirsten, Schmidt, Axel, Delrue, Marie-Ange, Almeida, Pedro M, Ramos, Fabiana, Srivastava, Siddharth, Quinlan, Aisling, Robertson, Stephen, Manka, Eva, Kuechler, Alma, Spranger, Stephanie, Nowaczyk, Malgorzata J M, Elshafie, Reem M, Alsharhan, Hind, Hillman, Paul R, Dunnington, Leslie A, Braakman, Hilde M H, McKee, Shane, Moresco, Angelica, Ignat, Andrea-Diana, Newbury-Ecob, Ruth, Banneau, Guillaume, Patat, Olivier, Kuerbitz, Jeffrey, Rzucidlo, Susan, Sell, Susan S, Gordon, Patricia, Schuhmann, Sarah, Reis, André, Halleb, Yosra, Stoeva, Radka, Keren, Boris, Al Masseri, Zainab, Tumer, Zeynep, Hammer-Hansen, Sophia, Krüger Sølyst, Sofus, Steigerwald, Connolly G, Abreu, Nicolas J, Faust, Helene, Müller-Nedebock, Amica, Tran Mau-Them, Frédéric, Sticht, Heinrich, Zweier, Christiane
المصدر: Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer Alisha; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, ....
مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), Autism spectrum disorders, Genetics research
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/266396/1/s41431_024_01760_2.pdf; info:pmid/39668183; urn:issn:1018-4813
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5Academic Journal
المؤلفون: Karthikeyan, Anhukrisha, McKee, Shane, McKay, Gareth J
المصدر: Karthikeyan , A , McKee , S & McKay , G J 2024 , ' Integration of genomic medicine to mainstream patient care within the UK National Health Service ' , The Ulster Medical Journal , vol. 93 , no. 3 , pp. 111-118 .
مصطلحات موضوعية: Humans, United Kingdom, Genomics, State Medicine, Genetic Testing/methods, Delivery of Health Care, Integrated/organization & administration, Precision Medicine/methods, Patient Care/methods
وصف الملف: application/pdf
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6Academic Journal
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
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7Academic Journal
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
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8Academic Journal
المؤلفون: Averdunk, Luisa, Huetzen, Maxim A, Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A, Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L, Antonin, Wolfram, Jachimowicz, Ron D, von Felbert, Verena, Distelmaier, Felix
المصدر: Genetics in Medicine, 25 (7), 100836 (2023-07)
مصطلحات موضوعية: Aging, DNA damage and repair, Mitotic errors, Rothmund-Thomson syndrome, Senescence, Hydroxyurea, CRIPT protein, human, Adaptor Proteins, Signal Transducing, Humans, Cellular Senescence/genetics, DNA Damage, Hydroxyurea/metabolism, Fibroblasts, Mutation, Adaptor Proteins, Signal Transducing/metabolism, Rothmund-Thomson Syndrome/genetics, Rothmund-Thomson Syndrome/diagnosis, Rothmund-Thomson Syndrome/pathology, Cellular Senescence, Genetics (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie
Relation: https://api.elsevier.com/content/article/PII:S1098360023008493?httpAccept=text/xml; urn:issn:1098-3600; urn:issn:1530-0366
URL الوصول: https://orbi.uliege.be/handle/2268/305423
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9
المؤلفون: Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Bayer Andersen, Janne, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, 1989, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Mokry, Jill A. Rosenfeld, Scarano, Emanuela, Shinawi, Marwan, Gomez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
المصدر: Human Genetics. 139(5):575-592
وصف الملف: electronic
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10Academic Journal
المؤلفون: Snijders Blok, Lot, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A. Micheil, Stumpel, Connie, Õunap, Katrin, Reinson, Karit, Seaby, Eleanor G., McKee, Shane, Burton, Barbara, Kim, Katherine, van Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine H., Sheppard, Sarah E., Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Lochmüller, Hanns, Higgs, Martin R., Goula, Amalia, Bernhard, Birgitta, Velasco, Danita J., Schmanski, Andrew A., Stark, Zornitza, Gallacher, Lyndon, Pais, Lynn, Marcogliese, Paul C., Yamamoto, Shinya, Raun, Nicholas, Jakub, Taryn E., Kramer, Jamie M., den Hoed, Joery, Fisher, Simon E., Brunner, Han G., Kleefstra, Tjitske
المصدر: Snijders Blok , L , Verseput , J , Rots , D , Venselaar , H , Innes , A M , Stumpel , C , Õunap , K , Reinson , K , Seaby , E G , McKee , S , Burton , B , Kim , K , van Hagen , J M , Waisfisz , Q , Joset , P , Steindl , K , Rauch , A , Li , D , Zackai , E H , Sheppard , S E , Keena , B , Hakonarson , H , Roos , A , ....
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11Academic Journal
المصدر: Reilly , K , McKenna , C , McCullough , S , McKee , S & Mone , F 2023 , ' Prenatal genomic testing for ultrasound detected fetal structural anomalies ' , The Obstetrician and Gynaecologist , vol. 25 , no. 2 , pp. 121-130 . https://doi.org/10.1111/tog.12870
مصطلحات موضوعية: genomic, Prenatal, fetus, Fetus/abnormalities, Sequence Analysis, DNA, exome sequencing, Reviews, fetal structural anomaly, quantitative fluorescence polymerase chain reaction, Review, chromosome microarray
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Page, Christopher, Zheng, Huiru, Wang, Haiying, Rai, Taranjit Singh, O’Kane, Maurice, Hart, Pádraig, McKee, Shane, Watterson, Steven
المساهمون: Jeemon, Panniyammakal, Department for the Economy, Northern Ireland, Health and Social Care Northern Ireland
المصدر: PLOS Global Public Health ; volume 3, issue 4, page e0001795 ; ISSN 2767-3375
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13Conference
المؤلفون: Page, Christopher, Zheng, Huiru, Wang, Haiying, Watterson, Steven, Rai, Taranjit Singh, O'Kane, Maurice, McKee, Shane, Hart, Pádraig
المصدر: 2024 35th Irish Signals and Systems Conference (ISSC)
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14Academic Journal
المؤلفون: Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A
المساهمون: Genetica Klinische Genetica, Brain
مصطلحات موضوعية: Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway, Genetics(clinical), Journal Article
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane-Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh-Lough, Hana, Tran-Mau-Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, de Sainte Agathe, Jean Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.
المصدر: Lines , M A , Goldenberg , P , Wong , A , Srivastava , S , Bayat , A , Hove , H , Karstensen , H G , Anyane-Yeboa , K , Liao , J , Jiang , N , May , A , Guzman , E , Morleo , M , D'Arrigo , S , Ciaccio , C , Pantaleoni , C , Castello , R , McKee , S , Ong , J , Zibdeh-Lough , H , Tran-Mau-Them , F , Gerasimenko , A , Heron , D , Keren , B , Margot ....
مصطلحات موضوعية: Genematcher, global developmental delay, intellectual disability, seizures, TRPM3, Epilepsy, Humans, Infant, Newborn, Diseases, Mutation, Missense, Developmental Disabilities/genetics, Whole Exome Sequencing, Intellectual Disability/genetics, Muscle Hypotonia/genetics, TRPM Cation Channels/genetics, Child
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: Balachandar, Srimmitha, Graves, Tamara J, Shimonty, Anika, Kerr, Katie, Kilner, Jill, Xiao, Sihao, Slade, Richard, Sroya, Manveer, Alikian, Mary, Curetean, Emanuel, Thomas, Ellen, McConnell, Vivienne, McKee, Shane, Boardman-Pretty, Freya, Devereau, Andrew, Fowler, Tom A, Caulfield, Mark J, Alton, Eric W, Ferguson, Teena, Redhead, Julian, McKnight, Amy J., Thomas, Geraldine A, Research Consortium, Genomics England, Aldred, Micheala A, Shovlin, Claire L
المصدر: Balachandar , S , Graves , T J , Shimonty , A , Kerr , K , Kilner , J , Xiao , S , Slade , R , Sroya , M , Alikian , M , Curetean , E , Thomas , E , McConnell , V , McKee , S , Boardman-Pretty , F , Devereau , A , Fowler , T A , Caulfield , M J , Alton , E W , Ferguson , T , Redhead , J , McKnight , A J , Thomas , G A , Research Consortium , G E ....
مصطلحات موضوعية: Genetics, Genetics (clinical)
وصف الملف: application/pdf
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17Academic Journal
المؤلفون: Kerr, Katie, McKenna, Caoimhe, Heggarty, Shirley, Bailie, Caitlin, McMullan, Julie, Crowe, Ashleen, Kilner, Jill, Donnelly, Michael, Boyle, Saralynne, Rea, Gillian, Flanagan, Cheryl, McKee, Shane, McKnight, Amy Jayne
المصدر: Kerr , K , McKenna , C , Heggarty , S , Bailie , C , McMullan , J , Crowe , A , Kilner , J , Donnelly , M , Boyle , S , Rea , G , Flanagan , C , McKee , S & McKnight , A J 2022 , ' A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland ' , Genes , vol. 13 , no. 7 , 1104 . https://doi.org/10.3390/genes13071104
مصطلحات موضوعية: collaboration, genomics, multiomics, public health, rare disease, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical), /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
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18Academic Journal
المؤلفون: Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, Deardorff, Matthew A
المصدر: Human molecular genetics. 23(11)
مصطلحات موضوعية: Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/77x9r19n
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19Academic Journal
المؤلفون: Greene, Daniel, De Wispelaere, Koenraad, Lees, Jon, Katrinecz, Andrea, Pascoal, Sonia, Hales, Emma, Codina-Solà, Marta, Valenzuela, Irene, Tizzano, Eduardo F, Atton, Giles, Donnelly, Deirdre, Foulds, Nicola, Jarvis, Joanna, McKee, Shane, O'Donoghue, Michael, Suri, Mohnish, Vasudevan, Pradeep, Stirrups, Kathy, Morgan, Natasha P, Freson, Kathleen, Mumford, Andrew D, Turro, Ernest
المصدر: Greene , D , De Wispelaere , K , Lees , J , Katrinecz , A , Pascoal , S , Hales , E , Codina-Solà , M , Valenzuela , I , Tizzano , E F , Atton , G , Donnelly , D , Foulds , N , Jarvis , J , McKee , S , O'Donoghue , M , Suri , M , Vasudevan , P , Stirrups , K , Morgan , N P , Freson , K , Mumford , A D & Turro , E 2024 , ' Mutations in the U2 snRNA ....
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20Conference
المؤلفون: Kerr, Katie, McAneney, Helen, Smyth, Laura, Bailie, Caitlin, McKee, Shane, McKnight, Amy Jayne
المصدر: Kerr , K , McAneney , H , Smyth , L , Bailie , C , McKee , S & McKnight , A J 2020 , ' An integrative multi-omic approach to expanding are disease research in Northern Ireland: crystal award ' , Joint North-South International Rare Disease Day: Annual Conference 2020 , Belfast , United Kingdom , 28/02/2020 - 28/02/2020 .
وصف الملف: application/pdf
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